메뉴 건너뛰기




Volumn 86, Issue 1-2, 2005, Pages 100-109

The genetic basis of bone marrow failure syndromes in children

Author keywords

Bone marrow failure syndromes; Congenital amegakaryocytic trombocytopenia; Diamond Blackfan anemia; Dyskeratosis congenita; Fanconi anemia; Severe congenital neutropenia; Shwachman Diamond syndrome

Indexed keywords

BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; CELL LINE; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CYTOPENIA; DISEASE COURSE; DYSKERATOSIS CONGENITA; FANCONI ANEMIA; GENETICS; HEMATOPOIESIS; HUMAN; MOLECULAR GENETICS; MOLECULAR MECHANICS; NEUTROPENIA; NONHUMAN; PANCYTOPENIA; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SHORT SURVEY; SHWACHMAN SYNDROME; THROMBOCYTOPENIA;

EID: 26244445825     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.006     Document Type: Review
Times cited : (22)

References (104)
  • 1
    • 0031922316 scopus 로고    scopus 로고
    • The hematopoietic garden. How does it grow?
    • J.M. Lipton The hematopoietic garden. How does it grow? J. Pediatr. 132 1998 565 567
    • (1998) J. Pediatr. , vol.132 , pp. 565-567
    • Lipton, J.M.1
  • 2
    • 0001306494 scopus 로고
    • Familiaere infantile perniziosaartige Anaemie (pernizioeses Blutbild und Konstitution)
    • G. Fanconi Familiaere infantile perniziosaartige Anaemie (pernizioeses Blutbild und Konstitution) Jahrbuch Kinderheil 117 1927 257 280
    • (1927) Jahrbuch Kinderheil , vol.117 , pp. 257-280
    • Fanconi, G.1
  • 3
    • 0036775612 scopus 로고    scopus 로고
    • Bone marrow failure syndromes in children
    • B.P. Alter Bone marrow failure syndromes in children Pediatr. Clin. North Amer. 49 2002 973 988
    • (2002) Pediatr. Clin. North Amer. , vol.49 , pp. 973-988
    • Alter, B.P.1
  • 4
    • 0027861014 scopus 로고
    • Fanconi anemia diagnosis and the diepoxybutane (DEB) test
    • A.D. Auerbach Fanconi anemia diagnosis and the diepoxybutane (DEB) test Exp. Hematol. 21 1993 731 733
    • (1993) Exp. Hematol. , vol.21 , pp. 731-733
    • Auerbach, A.D.1
  • 5
    • 0029861118 scopus 로고    scopus 로고
    • Fanconi anemia and malignancies
    • B.P. Alter Fanconi anemia and malignancies Am. J. Hematol. 53 1996 99 110
    • (1996) Am. J. Hematol. , vol.53 , pp. 99-110
    • Alter, B.P.1
  • 6
    • 12944315003 scopus 로고    scopus 로고
    • Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA matched unrelated donors: A study on behalf of the European Group for Blood and Bone Marrow Transplantation
    • P. Guardiola, R. Pasquini, and I. Dokal Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA matched unrelated donors: a study on behalf of the European Group for Blood and Bone Marrow Transplantation Blood 95 2000 422 429
    • (2000) Blood , vol.95 , pp. 422-429
    • Guardiola, P.1    Pasquini, R.2    Dokal, I.3
  • 8
    • 0028858123 scopus 로고
    • Carrier frequency of the IVS4 +4 a to T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population
    • P.C. Verlander, A. Kaporis, and Q. Liu Carrier frequency of the IVS4 +4 A to T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population Blood 86 1995 4034 4038
    • (1995) Blood , vol.86 , pp. 4034-4038
    • Verlander, P.C.1    Kaporis, A.2    Liu, Q.3
  • 10
    • 16944362011 scopus 로고    scopus 로고
    • Evidence for at least eight Fanconi anemia genes
    • H. Joenje, A.B. Oostra, and M. Wijker Evidence for at least eight Fanconi anemia genes Am. J. Hum. Genet. 61 1997 940 944
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 940-944
    • Joenje, H.1    Oostra, A.B.2    Wijker, M.3
  • 11
    • 0037123768 scopus 로고    scopus 로고
    • Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways
    • T. Taniguchi, I. Garcia-Higuera, and B. Xu Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways Cell 109 2002 459 472
    • (2002) Cell , vol.109 , pp. 459-472
    • Taniguchi, T.1    Garcia-Higuera, I.2    Xu, B.3
  • 12
    • 0037178762 scopus 로고    scopus 로고
    • D-Day or BRCA2
    • E. Witt, and A. Ashworth D-Day or BRCA2 Science 297 2002 534
    • (2002) Science , vol.297 , pp. 534
    • Witt, E.1    Ashworth, A.2
  • 13
    • 8944258558 scopus 로고    scopus 로고
    • Germ cell defects and hematopoietic hypersensitivity to gamma interferon in mice with a targeted disruption Fanconi anemia C gene
    • M.A. Whitney, G. Royle, and M.J. Low Germ cell defects and hematopoietic hypersensitivity to gamma interferon in mice with a targeted disruption Fanconi anemia C gene Blood 88 1996 49 58
    • (1996) Blood , vol.88 , pp. 49-58
    • Whitney, M.A.1    Royle, G.2    Low, M.J.3
  • 14
    • 0142150968 scopus 로고    scopus 로고
    • Phenotype correction of Fanconi anemia group a hematopoietic cells using lentiviral vector
    • K. Yamada, and A. Ramazani Phenotype correction of Fanconi anemia group A hematopoietic cells using lentiviral vector Mol. Ther. 8 2003 600 610
    • (2003) Mol. Ther. , vol.8 , pp. 600-610
    • Yamada, K.1    Ramazani, A.2
  • 15
    • 0032796554 scopus 로고    scopus 로고
    • Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism
    • Q. Waisfisz, N.V. Morgan, and M. Savino Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism Nat. Genet. 22 1999 379 383
    • (1999) Nat. Genet. , vol.22 , pp. 379-383
    • Waisfisz, Q.1    Morgan, N.V.2    Savino, M.3
  • 16
    • 0037105463 scopus 로고    scopus 로고
    • In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group-A knockout mice
    • P. Rio, J.C. Segovia, and H. Haneberg In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group-A knockout mice Blood 100 2002 2032 2039
    • (2002) Blood , vol.100 , pp. 2032-2039
    • Rio, P.1    Segovia, J.C.2    Haneberg, H.3
  • 17
    • 0033588822 scopus 로고    scopus 로고
    • Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANC C)
    • J.M. Lin, and S. Kim Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANC C) Hum. Gene Ther. 10 1999 2337 2346
    • (1999) Hum. Gene Ther. , vol.10 , pp. 2337-2346
    • Lin, J.M.1    Kim, S.2
  • 18
    • 0037108187 scopus 로고    scopus 로고
    • Gene therapy of Fanconi anemia: Preclinical efficacy using lentiviral vectors
    • F. Galimi, M. Noll, and Y. Kanazawa Gene therapy of Fanconi anemia: preclinical efficacy using lentiviral vectors Blood 100 2002 2732 2736
    • (2002) Blood , vol.100 , pp. 2732-2736
    • Galimi, F.1    Noll, M.2    Kanazawa, Y.3
  • 19
    • 0001033529 scopus 로고
    • Anaemia of infancy and early childhood
    • H.W. Josephs Anaemia of infancy and early childhood Medicine 15 1936 307 345
    • (1936) Medicine , vol.15 , pp. 307-345
    • Josephs, H.W.1
  • 21
    • 0035093173 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry
    • A. Vlachos, N. Federman, and C. Reyes-Haley Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry Bone Marrow Transplant. 27 2001 381 386
    • (2001) Bone Marrow Transplant. , vol.27 , pp. 381-386
    • Vlachos, A.1    Federman, N.2    Reyes-Haley, C.3
  • 22
    • 0035129306 scopus 로고    scopus 로고
    • Osteogenic sarcoma associated with Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry
    • J.M. Lipton, N. Federman, and Y. Khabbaze Osteogenic sarcoma associated with Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry J. Pediatr. Hematol. Oncol. 23 2001 39 45
    • (2001) J. Pediatr. Hematol. Oncol. , vol.23 , pp. 39-45
    • Lipton, J.M.1    Federman, N.2    Khabbaze, Y.3
  • 23
    • 0030921672 scopus 로고    scopus 로고
    • Diamond-Blackfan anaemia in a girl with a de-novo balanced reciprocal (X;19) translocation
    • P. Gustavsson, G. Skeppner, and B. Johansson Diamond-Blackfan anaemia in a girl with a de-novo balanced reciprocal (X;19) translocation J. Med. Genet. 34 1997 779 782
    • (1997) J. Med. Genet. , vol.34 , pp. 779-782
    • Gustavsson, P.1    Skeppner, G.2    Johansson, B.3
  • 24
    • 0030814581 scopus 로고    scopus 로고
    • Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8Mb
    • P. Gustavsson, T.N. Willig, and A. Van Haeringen Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8Mb Nat. Genet. 16 1997 368 371
    • (1997) Nat. Genet. , vol.16 , pp. 368-371
    • Gustavsson, P.1    Willig, T.N.2    Van Haeringen, A.3
  • 25
    • 0032907438 scopus 로고    scopus 로고
    • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anemia
    • N. Draptchinskaia, P. Gustavsson, and B. Andersson The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anemia Nat. Genet. 21 1999 169 175
    • (1999) Nat. Genet. , vol.21 , pp. 169-175
    • Draptchinskaia, N.1    Gustavsson, P.2    Andersson, B.3
  • 26
    • 0035976755 scopus 로고    scopus 로고
    • Fibroblast growth factor-2 interacts with free ribosomal protein S19
    • F. Soulet, T. Al Saati, and S. Roga Fibroblast growth factor-2 interacts with free ribosomal protein S19 Biochem. Biophys. Res. Commun. 289 2001 591 596
    • (2001) Biochem. Biophys. Res. Commun. , vol.289 , pp. 591-596
    • Soulet, F.1    Al Saati, T.2    Roga, S.3
  • 27
    • 0032748378 scopus 로고    scopus 로고
    • Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
    • H. Matsson, J. Klar, and N. Draptchinskaia Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia Hum. Genet. 105 1999 496 500
    • (1999) Hum. Genet. , vol.105 , pp. 496-500
    • Matsson, H.1    Klar, J.2    Draptchinskaia, N.3
  • 28
    • 13044266374 scopus 로고    scopus 로고
    • Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: Wide variations in phenotypic expression
    • T.N. Willig, N. Draptchinskaia, and I. Dianzani Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: wide variations in phenotypic expression Blood 94 1999 4294 4306
    • (1999) Blood , vol.94 , pp. 4294-4306
    • Willig, T.N.1    Draptchinskaia, N.2    Dianzani, I.3
  • 29
    • 1942486326 scopus 로고    scopus 로고
    • Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
    • H. Matsson, E.J. Davey, and N. Draptchinskaia Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation Mol. Cell. Biol. 24 2004 4032 4037
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 4032-4037
    • Matsson, H.1    Davey, E.J.2    Draptchinskaia, N.3
  • 30
    • 0038383284 scopus 로고    scopus 로고
    • Nucleolar localization of RPS 19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology
    • L. Da Costa, G. Tchernia, and P. Gascard Nucleolar localization of RPS 19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology Blood 101 2003 5039 5045
    • (2003) Blood , vol.101 , pp. 5039-5045
    • Da Costa, L.1    Tchernia, G.2    Gascard, P.3
  • 31
    • 0037222691 scopus 로고    scopus 로고
    • Ribosomal protein S19 expression during erythroid differentiation
    • L. Da Costa, G. Narla, and T.N. Willig Ribosomal protein S19 expression during erythroid differentiation Blood 101 2003 318 324
    • (2003) Blood , vol.101 , pp. 318-324
    • Da Costa, L.1    Narla, G.2    Willig, T.N.3
  • 32
    • 26244444485 scopus 로고    scopus 로고
    • + cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia
    • + cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia Blood 2004 (Epub ahead of print)
    • (2004) Blood
    • Flygare, J.1    Kiefer, T.2    Miyake, K.3
  • 33
    • 0035313157 scopus 로고    scopus 로고
    • Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and non-19q non-8p familial disease
    • H. Gazda, J.M. Lipton, and T.N. Willig Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and non-19q non-8p familial disease Blood 97 2001 2145 2150
    • (2001) Blood , vol.97 , pp. 2145-2150
    • Gazda, H.1    Lipton, J.M.2    Willig, T.N.3
  • 34
    • 0034014386 scopus 로고    scopus 로고
    • A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
    • D. Tentler, P. Gustavsson, G. Elinder, O. Eklof, L. Gordon, and A. Mandel A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome J. Med. Genet. 37 2000 128 131
    • (2000) J. Med. Genet. , vol.37 , pp. 128-131
    • Tentler, D.1    Gustavsson, P.2    Elinder, G.3    Eklof, O.4    Gordon, L.5    Mandel, A.6
  • 35
    • 0037108191 scopus 로고    scopus 로고
    • Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia
    • I. Hamaguchi, A. Ooka, and A. Brun Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia Blood 100 2002 2724 2731
    • (2002) Blood , vol.100 , pp. 2724-2731
    • Hamaguchi, I.1    Ooka, A.2    Brun, A.3
  • 36
    • 0038190929 scopus 로고    scopus 로고
    • Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia improves following RPS19 gene transfer
    • I. Hamaguchi, J. Flygare, and H. Nishiura Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia improves following RPS19 gene transfer Mol. Ther. 7 2003 613 622
    • (2003) Mol. Ther. , vol.7 , pp. 613-622
    • Hamaguchi, I.1    Flygare, J.2    Nishiura, H.3
  • 37
    • 0000785397 scopus 로고
    • The syndrome of pancreatic insufficiency and bone marrow dysfunction
    • H. Shwachman, L.K. Diamond, and F.A. Oski The syndrome of pancreatic insufficiency and bone marrow dysfunction J. Pediatr. 65 1964 645 663
    • (1964) J. Pediatr. , vol.65 , pp. 645-663
    • Shwachman, H.1    Diamond, L.K.2    Oski, F.A.3
  • 38
    • 0000951515 scopus 로고
    • Congenital hypoplasia of the exocrine pancreas
    • M. Bodian, W. Sheldon, and R. Lightwood Congenital hypoplasia of the exocrine pancreas Acta Pediatr. 53 1964 282 293
    • (1964) Acta Pediatr. , vol.53 , pp. 282-293
    • Bodian, M.1    Sheldon, W.2    Lightwood, R.3
  • 39
    • 0033497428 scopus 로고    scopus 로고
    • Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
    • H. Ginzberg, J. Shin, and L. Ellis Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar J. Pediatr. 135 1999 81 88
    • (1999) J. Pediatr. , vol.135 , pp. 81-88
    • Ginzberg, H.1    Shin, J.2    Ellis, L.3
  • 40
    • 1242273630 scopus 로고    scopus 로고
    • Skeletal phenotypes in patients with Shwachman-Diamond syndrome and mutations in SBDS
    • O. Makitie, L. Ellis, and P.R. Durie Skeletal phenotypes in patients with Shwachman-Diamond syndrome and mutations in SBDS Clin. Genet. 65 2004 101 112
    • (2004) Clin. Genet. , vol.65 , pp. 101-112
    • Makitie, O.1    Ellis, L.2    Durie, P.R.3
  • 41
    • 0036042153 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Y. Dror, and M.H. Freedman Shwachman-Diamond syndrome Br. J. Haematol. 118 2002 701 713
    • (2002) Br. J. Haematol. , vol.118 , pp. 701-713
    • Dror, Y.1    Freedman, M.H.2
  • 42
    • 85047697639 scopus 로고    scopus 로고
    • Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome
    • J. Flietz, S. Rumelhart, and F. Goldman Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome Bone Marrow Transplant. 29 2002 75 79
    • (2002) Bone Marrow Transplant. , vol.29 , pp. 75-79
    • Flietz, J.1    Rumelhart, S.2    Goldman, F.3
  • 43
    • 0030729911 scopus 로고    scopus 로고
    • Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome
    • I. Dokai, S. Rule, and F. Chen Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome Br. J. Haematol. 99 1997 171 173
    • (1997) Br. J. Haematol. , vol.99 , pp. 171-173
    • Dokai, I.1    Rule, S.2    Chen, F.3
  • 44
    • 0029929155 scopus 로고    scopus 로고
    • Haematological abnormalities in Shwachman-Diamond syndrome
    • O. Smith, I.M. Hann, and J.M. Chessels Haematological abnormalities in Shwachman-Diamond syndrome Br. J. Haematol. 94 1996 279 284
    • (1996) Br. J. Haematol. , vol.94 , pp. 279-284
    • Smith, O.1    Hann, I.M.2    Chessels, J.M.3
  • 45
    • 0033230361 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment
    • Y. Dror, and M.H. Freedman Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment Blood 94 1999 3048 3054
    • (1999) Blood , vol.94 , pp. 3048-3054
    • Dror, Y.1    Freedman, M.H.2
  • 46
    • 0035874541 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome marrow cells show increased apoptosis mediated through the Fas pathway
    • Y. Dror, and M.H. Freedman Shwachman-Diamond syndrome marrow cells show increased apoptosis mediated through the Fas pathway Blood 97 2001 3011 3016
    • (2001) Blood , vol.97 , pp. 3011-3016
    • Dror, Y.1    Freedman, M.H.2
  • 47
    • 0036229263 scopus 로고    scopus 로고
    • Telomere shortening in leukocytes of children with Shwachman-Diamond syndrome
    • I. Thornley, Y. Dror, and L. Sung Telomere shortening in leukocytes of children with Shwachman-Diamond syndrome Br. J. Haematol. 117 2002 189 192
    • (2002) Br. J. Haematol. , vol.117 , pp. 189-192
    • Thornley, I.1    Dror, Y.2    Sung, L.3
  • 48
    • 0031702803 scopus 로고    scopus 로고
    • Malignant myeloid transformation with isochrome 7 (q) in Shwachman-Diamond syndrome
    • Y. Dror, J. Squire, and P. Durie Malignant myeloid transformation with isochrome 7 (q) in Shwachman-Diamond syndrome Leukaemia 12 1998 1591 1595
    • (1998) Leukaemia , vol.12 , pp. 1591-1595
    • Dror, Y.1    Squire, J.2    Durie, P.3
  • 49
    • 0035071609 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
    • S. Goobie, M. Popovic, and J.A. Morrison Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7 Am. J. Hum. Genet. 68 2001 1048 1054
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1048-1054
    • Goobie, S.1    Popovic, M.2    Morrison, J.A.3
  • 50
    • 0037229094 scopus 로고    scopus 로고
    • Mutations in SBDS are associated with Shwachman-Diamond syndrome
    • G. Boocock, J.A. Morrison, and M. Popovic Mutations in SBDS are associated with Shwachman-Diamond syndrome Nat. Genet. 33 2003 97 101
    • (2003) Nat. Genet. , vol.33 , pp. 97-101
    • Boocock, G.1    Morrison, J.A.2    Popovic, M.3
  • 51
    • 0034322389 scopus 로고    scopus 로고
    • CGC-CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis
    • J.M. Chen, O. Raguenes, and C. Ferec CGC-CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis J. Med. Genet. 37 2000 E36
    • (2000) J. Med. Genet. , vol.37 , pp. 36
    • Chen, J.M.1    Raguenes, O.2    Ferec, C.3
  • 52
    • 0031788063 scopus 로고    scopus 로고
    • Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
    • S. Bunge Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II Eur. J. Hum. Genet. 6 1998 492 500
    • (1998) Eur. J. Hum. Genet. , vol.6 , pp. 492-500
    • Bunge, S.1
  • 53
    • 0034653483 scopus 로고    scopus 로고
    • Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
    • J. Roesler Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease Blood 15 2000 2150 2156
    • (2000) Blood , vol.15 , pp. 2150-2156
    • Roesler, J.1
  • 54
    • 9444291841 scopus 로고    scopus 로고
    • Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
    • J.R. Woloszynek, R.J. Rothbaum, and A.S. Rawls Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome Blood 104 2004 3588 3590
    • (2004) Blood , vol.104 , pp. 3588-3590
    • Woloszynek, J.R.1    Rothbaum, R.J.2    Rawls, A.S.3
  • 55
    • 21444446063 scopus 로고    scopus 로고
    • The Schwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
    • A. Savchenko, N. Krogan, and J.R. Cort The Schwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism J. Biol. Chem. 280 2005 19213 19220
    • (2005) J. Biol. Chem. , vol.280 , pp. 19213-19220
    • Savchenko, A.1    Krogan, N.2    Cort, J.R.3
  • 56
    • 0011416218 scopus 로고    scopus 로고
    • CAMT: New findings and new questions
    • K. Kaushansky CAMT: new findings and new questions Blood 97 2001 1 2
    • (2001) Blood , vol.97 , pp. 1-2
    • Kaushansky, K.1
  • 57
    • 0032837601 scopus 로고    scopus 로고
    • Serum levels of thrombopoietin, IL-11 and IL-6 in pediatric thrombocytopenias
    • M. Cremer, H. Schulze, and G. Linthorst Serum levels of thrombopoietin, IL-11 and IL-6 in pediatric thrombocytopenias Ann. Hematol. 78 1999 401 407
    • (1999) Ann. Hematol. , vol.78 , pp. 401-407
    • Cremer, M.1    Schulze, H.2    Linthorst, G.3
  • 58
    • 0033867088 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia
    • A. Lackner, O. Basu, and M. Bierings Hematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia Br. J. Haematol. 109 2000 773 775
    • (2000) Br. J. Haematol. , vol.109 , pp. 773-775
    • Lackner, A.1    Basu, O.2    Bierings, M.3
  • 59
    • 1942538288 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT)
    • A. Al-Ahmari, M. Ayas, and A. Al-Jefri Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT) Bone Marrow Transplant. 33 2004 829 831
    • (2004) Bone Marrow Transplant. , vol.33 , pp. 829-831
    • Al-Ahmari, A.1    Ayas, M.2    Al-Jefri, A.3
  • 60
    • 0027530150 scopus 로고
    • Cytokine treatment of inherited bone marrow failure syndromes
    • A.P. Gillio, and J.L. Gabrilove Cytokine treatment of inherited bone marrow failure syndromes Blood 81 1993 1669 1674
    • (1993) Blood , vol.81 , pp. 1669-1674
    • Gillio, A.P.1    Gabrilove, J.L.2
  • 61
    • 0027470022 scopus 로고
    • Effects of interleukin 3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia
    • E.C. Guinan, Y.S. Lee, and K.D. Lopez Effects of interleukin 3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia Blood 81 1993 1691 1698
    • (1993) Blood , vol.81 , pp. 1691-1698
    • Guinan, E.C.1    Lee, Y.S.2    Lopez, K.D.3
  • 62
    • 0033019932 scopus 로고    scopus 로고
    • Identification of mutations in the c-mpl gene in amegakaryocytic thrombocytopenia
    • K. Ihara, E. Ishii, and M. Eguchi Identification of mutations in the c-mpl gene in amegakaryocytic thrombocytopenia Proc. Natl. Acad. Sci. USA 96 1999 3132 3136
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 3132-3136
    • Ihara, K.1    Ishii, E.2    Eguchi, M.3
  • 63
    • 0033845012 scopus 로고    scopus 로고
    • Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia
    • S. van den Oudenrijn, M. Bruin, and C.C. Folman Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia Br. J. Haematol. 110 2000 441 448
    • (2000) Br. J. Haematol. , vol.110 , pp. 441-448
    • Van Den Oudenrijn, S.1    Bruin, M.2    Folman, C.C.3
  • 64
    • 0033781085 scopus 로고    scopus 로고
    • Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)
    • R. Tonelli, A.L. Scardovi, and A. Pession Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) Hum. Genet. 107 2000 225 233
    • (2000) Hum. Genet. , vol.107 , pp. 225-233
    • Tonelli, R.1    Scardovi, A.L.2    Pession, A.3
  • 65
    • 0035174334 scopus 로고    scopus 로고
    • C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
    • M. Ballmaier, M. Germeshausen, and H. Schulze C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia Blood 97 2001 139 146
    • (2001) Blood , vol.97 , pp. 139-146
    • Ballmaier, M.1    Germeshausen, M.2    Schulze, H.3
  • 66
    • 0029960265 scopus 로고    scopus 로고
    • Deficiencies in progenitor cells of multiple hematpoietic lineages and defective megakaryopoiesis in mice lacking the thrombopoietic receptor c-Mpl
    • W.S. Alexander, A.W. Roberts, and N.A. Nicola Deficiencies in progenitor cells of multiple hematpoietic lineages and defective megakaryopoiesis in mice lacking the thrombopoietic receptor c-Mpl Blood 87 1996 2162 2170
    • (1996) Blood , vol.87 , pp. 2162-2170
    • Alexander, W.S.1    Roberts, A.W.2    Nicola, N.A.3
  • 67
    • 0032126638 scopus 로고    scopus 로고
    • Role of c-mpl in early hematopoiesis
    • G.P. Solar, W.G. Kerr, and F.C. Ziegler Role of c-mpl in early hematopoiesis Blood 92 1998 4 10
    • (1998) Blood , vol.92 , pp. 4-10
    • Solar, G.P.1    Kerr, W.G.2    Ziegler, F.C.3
  • 68
    • 0032477741 scopus 로고    scopus 로고
    • Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin
    • S. Kimura, A.W. Roberts, and D. Metcalf Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin Proc. Natl. Acad. Sci. USA 95 1998 1195 1200
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 1195-1200
    • Kimura, S.1    Roberts, A.W.2    Metcalf, D.3
  • 69
    • 0032870567 scopus 로고    scopus 로고
    • Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice
    • X.Q. Yan, D.L. Lacey, and C. Saris Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice Exp. Hematol. 27 1999 1409 1417
    • (1999) Exp. Hematol. , vol.27 , pp. 1409-1417
    • Yan, X.Q.1    Lacey, D.L.2    Saris, C.3
  • 70
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • I. Dokai Dyskeratosis congenita in all its forms Br. J. Haematol. 110 2000 768 779
    • (2000) Br. J. Haematol. , vol.110 , pp. 768-779
    • Dokai, I.1
  • 71
    • 0032424906 scopus 로고    scopus 로고
    • Dyskeratosis congenita (DC) registry: Identification of new features of DC
    • S. Knight, T. Vuillamy, and A. Copplestone Dyskeratosis congenita (DC) registry: identification of new features of DC Br. J. Haematol. 103 1998 990 996
    • (1998) Br. J. Haematol. , vol.103 , pp. 990-996
    • Knight, S.1    Vuillamy, T.2    Copplestone, A.3
  • 72
    • 26244466023 scopus 로고    scopus 로고
    • Bone marrow transplant for dyskeratosis congenita
    • Y.L. Lau, S.Y. Ha, and C.F. Chan Bone marrow transplant for dyskeratosis congenita Br. J. Haematol. 23 1999 299 301
    • (1999) Br. J. Haematol. , vol.23 , pp. 299-301
    • Lau, Y.L.1    Ha, S.Y.2    Chan, C.F.3
  • 73
    • 0022477628 scopus 로고
    • Assignment of the gene for dyskeratosis congenita to Xq28
    • J.M. Connor, D. Gatherer, and F.C. Gray Assignment of the gene for dyskeratosis congenita to Xq28 Hum. Genet. 72 1986 348 351
    • (1986) Hum. Genet. , vol.72 , pp. 348-351
    • Connor, J.M.1    Gatherer, D.2    Gray, F.C.3
  • 74
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • T. Vulliamy, A. Marrone, and F. Goldman The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature 413 2001 432 435
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3
  • 75
    • 0032705706 scopus 로고    scopus 로고
    • Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
    • S.W. Knight, N.S. Heiss, and T.J. Vuillamy Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 Br. J. Haematol. 107 1999 335 339
    • (1999) Br. J. Haematol. , vol.107 , pp. 335-339
    • Knight, S.W.1    Heiss, N.S.2    Vuillamy, T.J.3
  • 76
    • 0030963268 scopus 로고    scopus 로고
    • Function and synthesis of small nucleolar RNAs
    • D. Tollervey, and T. Kiss Function and synthesis of small nucleolar RNAs Curr. Opin. Cell Biol. 9 1997 337 342
    • (1997) Curr. Opin. Cell Biol. , vol.9 , pp. 337-342
    • Tollervey, D.1    Kiss, T.2
  • 77
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • J.R. Mitchell, E. Wood, and K. Collins A telomerase component is defective in the human disease dyskeratosis congenita Nature 402 1999 551 555
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 78
    • 0141763835 scopus 로고    scopus 로고
    • Telomere maintenance and disease
    • J.M. Wong, and K. Collins Telomere maintenance and disease Lancet 362 2003 983 988
    • (2003) Lancet , vol.362 , pp. 983-988
    • Wong, J.M.1    Collins, K.2
  • 79
    • 0037148271 scopus 로고    scopus 로고
    • Telomerase in the human organism
    • K. Collins, and J.R. Mitchell Telomerase in the human organism Oncogene 21 2002 564 579
    • (2002) Oncogene , vol.21 , pp. 564-579
    • Collins, K.1    Mitchell, J.R.2
  • 80
    • 0034966374 scopus 로고    scopus 로고
    • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    • T.J. Vulliamy, S.W. Knight, and P.J. Mason Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita Blood Cells 27 2001 353 357
    • (2001) Blood Cells , vol.27 , pp. 353-357
    • Vulliamy, T.J.1    Knight, S.W.2    Mason, P.J.3
  • 82
    • 5044251217 scopus 로고    scopus 로고
    • Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita
    • J.M. Wong, M.J. Kyasa, and L. Hutchins Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita Hum. Genet. 115 2004 448 455
    • (2004) Hum. Genet. , vol.115 , pp. 448-455
    • Wong, J.M.1    Kyasa, M.J.2    Hutchins, L.3
  • 83
    • 25444519237 scopus 로고    scopus 로고
    • Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakle active telomerase enzyme defective in telomere elongation
    • M.A. Cerrone, R.J. Ward, and J.A. Londono-Vallejo Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakle active telomerase enzyme defective in telomere elongation Cell Cycle 4 2005 (Epublication ahead of print)
    • (2005) Cell Cycle , vol.4
    • Cerrone, M.A.1    Ward, R.J.2    Londono-Vallejo, J.A.3
  • 84
    • 0037206947 scopus 로고    scopus 로고
    • Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
    • J. He, S. Navarrete, and M. Jasinski Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice Oncogene 21 2002 7740 7744
    • (2002) Oncogene , vol.21 , pp. 7740-7744
    • He, J.1    Navarrete, S.2    Jasinski, M.3
  • 85
    • 0030931491 scopus 로고    scopus 로고
    • Telomere shortening and tumor formation by mouse cells lacking telomerase RNA
    • M.A. Blasco, H. Lee, and M.P. Hande Telomere shortening and tumor formation by mouse cells lacking telomerase RNA Cell 91 1997 25 34
    • (1997) Cell , vol.91 , pp. 25-34
    • Blasco, M.A.1    Lee, H.2    Hande, M.P.3
  • 86
    • 0036200639 scopus 로고    scopus 로고
    • Immunosenescence phenotypes in the telomerase knockout mouse
    • M.A. Blasco Immunosenescence phenotypes in the telomerase knockout mouse Springer Semin. Immunopathol. 24 2002 75 85
    • (2002) Springer Semin. Immunopathol. , vol.24 , pp. 75-85
    • Blasco, M.A.1
  • 87
    • 2442617343 scopus 로고    scopus 로고
    • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    • T. Vulliamy, A. Marrone, and R. Szydlo Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC Nat. Genet. 36 2004 447 449
    • (2004) Nat. Genet. , vol.36 , pp. 447-449
    • Vulliamy, T.1    Marrone, A.2    Szydlo, R.3
  • 88
    • 0034667771 scopus 로고    scopus 로고
    • + T cell clones by ectopic expression of telomerase reverse transcriptase
    • + T cell clones by ectopic expression of telomerase reverse transcriptase J. Immunol. 165 2000 4239 4245
    • (2000) J. Immunol. , vol.165 , pp. 4239-4245
    • Hoijberg, E.1    Ruizendaal, J.J.2    Snijders, P.J.3
  • 89
    • 0035437179 scopus 로고    scopus 로고
    • Transfer of the human telomerase reverse transcriptase (TERT) gene into T lymphocytes results in extension of replicative potential
    • N. Rufer, M. Migliaccio, and J. Antonchuk Transfer of the human telomerase reverse transcriptase (TERT) gene into T lymphocytes results in extension of replicative potential Blood 98 2001 597 603
    • (2001) Blood , vol.98 , pp. 597-603
    • Rufer, N.1    Migliaccio, M.2    Antonchuk, J.3
  • 90
    • 77049235105 scopus 로고
    • Infantile genetic agranulocytosis. a new recessive lethal disease in man
    • R. Kostmann Infantile genetic agranulocytosis. A new recessive lethal disease in man Acta Paediatr. Scand. 45 1956 1 78
    • (1956) Acta Paediatr. Scand. , vol.45 , pp. 1-78
    • Kostmann, R.1
  • 91
    • 0036216657 scopus 로고    scopus 로고
    • Kostmann syndrome and severe congenital neutropenia
    • C. Ziedler, and K. Welte Kostmann syndrome and severe congenital neutropenia Semin. Hematol. 39 2002 82 88
    • (2002) Semin. Hematol. , vol.39 , pp. 82-88
    • Ziedler, C.1    Welte, K.2
  • 92
    • 0011982978 scopus 로고    scopus 로고
    • Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
    • M.H. Freedman, M.A. Bonilla, and C. Fier Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy Blood 96 2000 429 436
    • (2000) Blood , vol.96 , pp. 429-436
    • Freedman, M.H.1    Bonilla, M.A.2    Fier, C.3
  • 93
    • 12244255076 scopus 로고    scopus 로고
    • Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
    • D.C. Dale, T.E. Cottle, and C.J. Fier Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry Am. J. Hematol. 72 2003 82 93
    • (2003) Am. J. Hematol. , vol.72 , pp. 82-93
    • Dale, D.C.1    Cottle, T.E.2    Fier, C.J.3
  • 94
    • 0030815976 scopus 로고    scopus 로고
    • Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia
    • M.H. Freedman Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia Curr. Opin. Hematol. 4 1997 217
    • (1997) Curr. Opin. Hematol. , vol.4 , pp. 217
    • Freedman, M.H.1
  • 95
    • 0034651925 scopus 로고    scopus 로고
    • Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
    • C. Ziedler, K. Welte, and F. Barak Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation Blood 95 2000 1195 1198
    • (2000) Blood , vol.95 , pp. 1195-1198
    • Ziedler, C.1    Welte, K.2    Barak, F.3
  • 96
    • 15544363068 scopus 로고    scopus 로고
    • Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation
    • S.W. Choi, L.A. Boxer, and M.A. Pulsipher Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation Bone Marrow Transplant. 35 2005 473 477
    • (2005) Bone Marrow Transplant. , vol.35 , pp. 473-477
    • Choi, S.W.1    Boxer, L.A.2    Pulsipher, M.A.3
  • 97
    • 0029792176 scopus 로고    scopus 로고
    • Dominantly inherited severe congenital neutropenia
    • G.L. Briars, H.F. Parry, and B.M. Ansari Dominantly inherited severe congenital neutropenia J. Infect. 33 1996 123 126
    • (1996) J. Infect. , vol.33 , pp. 123-126
    • Briars, G.L.1    Parry, H.F.2    Ansari, B.M.3
  • 98
    • 0029129034 scopus 로고
    • Mutations in the gene for the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia
    • F. Dong, R.K. Brynes, and N. Tidow Mutations in the gene for the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia N. Engl. J. Med. 333 1995 487 493
    • (1995) N. Engl. J. Med. , vol.333 , pp. 487-493
    • Dong, F.1    Brynes, R.K.2    Tidow, N.3
  • 99
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • D.C. Dale, R.E. Pearson, and A.A. Bolyard Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Blood 96 2000 2317 2322
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Pearson, R.E.2    Bolyard, A.A.3
  • 100
    • 2542434031 scopus 로고    scopus 로고
    • Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register
    • C. Bellanne-Chantelot, S. Clauin, and T. Leblanc Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register Blood 103 2004 4119 4125
    • (2004) Blood , vol.103 , pp. 4119-4125
    • Bellanne-Chantelot, C.1    Clauin, S.2    Leblanc, T.3
  • 101
  • 102
    • 0031836105 scopus 로고    scopus 로고
    • Mice lacking neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis
    • A. Belaaouaj, R. McCarthy, and M. Baumabb Mice lacking neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis Nat. Med. 4 1998 615 618
    • (1998) Nat. Med. , vol.4 , pp. 615-618
    • Belaaouaj, A.1    McCarthy, R.2    Baumabb, M.3
  • 103
    • 0036839563 scopus 로고    scopus 로고
    • Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis
    • D.S. Grenda, S.E. Johnson, and J.R. Mayer Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis Blood 100 2002 3221 3228
    • (2002) Blood , vol.100 , pp. 3221-3228
    • Grenda, D.S.1    Johnson, S.E.2    Mayer, J.R.3
  • 104
    • 18244377662 scopus 로고    scopus 로고
    • Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes
    • P. Massullo, L.J. Druhan, and B.A. Bunnell Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes Blood 105 2005 3397 3404
    • (2005) Blood , vol.105 , pp. 3397-3404
    • Massullo, P.1    Druhan, L.J.2    Bunnell, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.