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Volumn 132, Issue 1, 1998, Pages 117-120

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary epherocytosis

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; MICROSATELLITE DNA;

EID: 0031893531     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70495-0     Document Type: Article
Times cited : (39)

References (22)
  • 1
    • 0142050379 scopus 로고
    • Disorders of the red cell membrane
    • PS Becker SE Lux Disorders of the red cell membrane DE Nathan FA Oski Hematology of infancy and childhood 1993 Saunders Philadelphia 529 633
    • (1993) , pp. 529-633
    • Becker, PS1    Lux, SE2
  • 2
    • 0003147477 scopus 로고
    • Disorders of the red cell membrane
    • SE Lux J Palek Disorders of the red cell membrane RI Handin SE Lux TP Stossel Blood: principles and practice of hematology 1995 J B Lippincott Philadelphia 1701 1818
    • (1995) , pp. 1701-1818
    • Lux, SE1    Palek, J2
  • 3
    • 0027490813 scopus 로고
    • Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis
    • P Savvides O Shaley KM John SE Lux Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis Blood 82 1993 2953 2960
    • (1993) Blood , vol.82 , pp. 2953-2960
    • Savvides, P1    Shaley, O2    John, KM3    Lux, SE4
  • 4
    • 0026083898 scopus 로고
    • Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin
    • M Hanspal SH Yoon H Yu Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin Blood 77 1991 165 173
    • (1991) Blood , vol.77 , pp. 165-173
    • Hanspal, M1    Yoon, SH2    Yu, H3
  • 5
    • 0028064834 scopus 로고
    • Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis
    • E Miraglia del Giudice A Iolascon L Pinto B Nobili S Perrotta Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis Br J Haematol 88 1994 52 55
    • (1994) Br J Haematol , vol.88 , pp. 52-55
    • Miraglia del Giudice, E1    Iolascon, A2    Pinto, L3    Nobili, B4    Perrotta, S5
  • 6
    • 0027429066 scopus 로고
    • Clinical expression and laboratory detection of red cell membrane protein mutations
    • J Palek P Jarolim Clinical expression and laboratory detection of red cell membrane protein mutations Semin Hematol 30 1993 249 283
    • (1993) Semin Hematol , vol.30 , pp. 249-283
    • Palek, J1    Jarolim, P2
  • 7
    • 0028925242 scopus 로고
    • A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis
    • P Jarolim HL Rubin V Brabec J Palek A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis J Clin Invest 95 1995 941 947
    • (1995) J Clin Invest , vol.95 , pp. 941-947
    • Jarolim, P1    Rubin, HL2    Brabec, V3    Palek, J4
  • 8
    • 9044220232 scopus 로고    scopus 로고
    • Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
    • SW Eber JM Gonazalez ML Lux Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis Nat Genet 13 1996 214 218
    • (1996) Nat Genet , vol.13 , pp. 214-218
    • Eber, SW1    Gonazalez, JM2    Lux, ML3
  • 9
    • 0029076642 scopus 로고
    • Comparison of the ankyrin microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis
    • P Jarolim HL Rubin V Brabec J Palek Comparison of the ankyrin microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis Blood 85 1995 3278 3282
    • (1995) Blood , vol.85 , pp. 3278-3282
    • Jarolim, P1    Rubin, HL2    Brabec, V3    Palek, J4
  • 10
    • 0025117790 scopus 로고
    • Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins
    • SE Lux KM John V Bennett Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins Nature (Lond) 344 1990 36 42
    • (1990) Nature (Lond) , vol.344 , pp. 36-42
    • Lux, SE1    John, KM2    Bennett, V3
  • 12
    • 0029980108 scopus 로고    scopus 로고
    • Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis
    • E Miraglia del Giudice S Hayette M Bozon Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene ( ANK1 ) associated with spherocytosis Br J Haematol 93 1996 828 834
    • (1996) Br J Haematol , vol.93 , pp. 828-834
    • Miraglia del Giudice, E1    Hayette, S2    Bozon, M3
  • 13
    • 0030995081 scopus 로고    scopus 로고
    • Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of ankyrin gene (ANK1) associated with spherocytosis
    • L Morlé M Bozon N Alloisio Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of ankyrin gene ( ANK1 ) associated with spherocytosis Am J Hematol 54 1997 242 248
    • (1997) Am J Hematol , vol.54 , pp. 242-248
    • Morlé, L1    Bozon, M2    Alloisio, N3
  • 15
    • 0027453719 scopus 로고
    • Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β-thalassaemia trait: partial correction of HS phenotype
    • E Miraglia del Giudice S Perrotta B Nobili L Pinto L Cutillo A Iolascon Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β-thalassaemia trait: partial correction of HS phenotype Br J Haematol 85 1993 553 557
    • (1993) Br J Haematol , vol.85 , pp. 553-557
    • Miraglia del Giudice, E1    Perrotta, S2    Nobili, B3    Pinto, L4    Cutillo, L5    Iolascon, A6
  • 16
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during assembly of the head of bacteriophage T4
    • UK Laemmli Cleavage of structural proteins during assembly of the head of bacteriophage T4 Nature (Lond) 227 1970 680 685
    • (1970) Nature (Lond) , vol.227 , pp. 680-685
    • Laemmli, UK1
  • 17
    • 0015236352 scopus 로고
    • Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane
    • G Fairbanks TL Steck DF Wallach Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane Biochemistry 10 1971 2606 2617
    • (1971) Biochemistry , vol.10 , pp. 2606-2617
    • Fairbanks, G1    Steck, TL2    Wallach, DF3
  • 18
    • 0023682251 scopus 로고
    • Estimation of relationess by DNA fingerprint
    • M Lynch Estimation of relationess by DNA fingerprint Mol Biol Evol 5 1988 584 599
    • (1988) Mol Biol Evol , vol.5 , pp. 584-599
    • Lynch, M1
  • 19
    • 0019477904 scopus 로고
    • De novo mutations producing unstable hemoglobins or hemoglobins M. I. Establishment of a depository and use of data to test for an association of de novo mutation with advanced parental age
    • G Stamatoyannopoulos PE Nute M Miller De novo mutations producing unstable hemoglobins or hemoglobins M. I. Establishment of a depository and use of data to test for an association of de novo mutation with advanced parental age Hum Genet 58 1981 394 404
    • (1981) Hum Genet , vol.58 , pp. 394-404
    • Stamatoyannopoulos, G1    Nute, PE2    Miller, M3
  • 20
    • 0025041070 scopus 로고
    • Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis
    • SW Eber R Armbrust W Schroter Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis J Pediatr 117 1990 409 416
    • (1990) J Pediatr , vol.117 , pp. 409-416
    • Eber, SW1    Armbrust, R2    Schroter, W3
  • 21
    • 0028113849 scopus 로고
    • Variation in fetal hemoglobin parameters and predicted hemoglobin F polymerisation in sickle cell children in the first two years of life
    • M Maier-Redelsperger CT Noguchi M de Montalembert Variation in fetal hemoglobin parameters and predicted hemoglobin F polymerisation in sickle cell children in the first two years of life Blood 84 1994 3182 3188
    • (1994) Blood , vol.84 , pp. 3182-3188
    • Maier-Redelsperger, M1    Noguchi, CT2    de Montalembert, M3


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