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Volumn 11, Issue 3, 2009, Pages 183-192

Validation of fanconi anemia complementation group A assignment using molecular analysis

Author keywords

Complementation group assignment; FANCA; Fanconi anemia; Molecular FANCA testing

Indexed keywords

COMPLEMENTARY DNA; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA GROUP E PROTEIN; FANCONI ANEMIA GROUP F PROTEIN; FANCONI ANEMIA GROUP G PROTEIN;

EID: 63449086355     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318193ba67     Document Type: Article
Times cited : (16)

References (71)
  • 1
    • 0028858123 scopus 로고
    • Carrier frequency of the IVS4 + 4 A->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population
    • Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD Carrier frequency of the IVS4 + 4 A->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population Blood 1995;86:4034 -4038
    • (1995) Blood , vol.86 , pp. 4034-4038
    • Verlander, P.C.1    Kaporis, A.2    Liu, Q.3    Zhang, Q.4    Seligsohn, U.5    Auerbach, A.D.6
  • 2
    • 20144385228 scopus 로고    scopus 로고
    • A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
    • Callén E, Casado JA, Tischkowitz MD, et al A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain Blood 2005;105:1946-1949
    • (2005) Blood , vol.105 , pp. 1946-1949
    • Callén, E.1    Casado, J.A.2    Tischkowitz, M.D.3
  • 3
    • 0029861118 scopus 로고    scopus 로고
    • Alter BP Fanconi's anemia and malignancies Am J Hematol 1996;53:99-110
    • Alter BP Fanconi's anemia and malignancies Am J Hematol 1996;53:99-110
  • 5
    • 0014112634 scopus 로고    scopus 로고
    • Fanconi G Familial constitutional panmyelocytopathy, Fanconi's anemia (FA) I Clinical aspects Semin Hematol 1967;4:233-240
    • Fanconi G Familial constitutional panmyelocytopathy, Fanconi's anemia (FA) I Clinical aspects Semin Hematol 1967;4:233-240
  • 6
    • 0020351041 scopus 로고
    • Spectrum of anomalies in Fanconi anemia
    • Glanz A, Fraser FCJ Spectrum of anomalies in Fanconi anemia Med Genet 1982;19:412-416
    • (1982) Med Genet , vol.19 , pp. 412-416
    • Glanz, A.1    Fraser, F.C.J.2
  • 7
    • 0025959243 scopus 로고
    • Leukemia and preleukemia in Fanconi anemia patients: A review of the literature and report of the international Fanconi anemia registry Cancer Genet
    • Auerbach AD, Allen RG Leukemia and preleukemia in Fanconi anemia patients: a review of the literature and report of the international Fanconi anemia registry Cancer Genet Cytogenet 1991;51:1-12
    • (1991) Cytogenet , vol.51 , pp. 1-12
    • Auerbach, A.D.1    Allen, R.G.2
  • 9
    • 0027861014 scopus 로고    scopus 로고
    • Auerbach AD Fanconi anemia diagnosis and the diepoxybutane (DEB) test Exp Hematol 1993;21:731-733
    • Auerbach AD Fanconi anemia diagnosis and the diepoxybutane (DEB) test Exp Hematol 1993;21:731-733
  • 10
    • 0037114696 scopus 로고    scopus 로고
    • A novel diagnostic screen for defects in the Fanconi anemia pathway
    • Shimamura A, Montes de Oca R, Svenson JL, et al A novel diagnostic screen for defects in the Fanconi anemia pathway Blood 2002;100:4649- 4654
    • (2002) Blood , vol.100 , pp. 4649-4654
    • Shimamura, A.1    Montes de Oca, R.2    Svenson, J.L.3
  • 11
    • 63449107426 scopus 로고    scopus 로고
    • Ponk JC, Gibson RA, Savoia A, Wijker M, et al Localization of the Fanconi
    • Ponk JC, Gibson RA, Savoia A, Wijker M, et al Localization of the Fanconi
  • 12
    • 0028840709 scopus 로고
    • anaemia complementation group A gene to chromosome 16q24 3
    • anaemia complementation group A gene to chromosome 16q24 3 Nat Genet 1995;11:338-340
    • (1995) Nat Genet , vol.11 , pp. 338-340
  • 13
    • 0029827550 scopus 로고    scopus 로고
    • Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
    • Loe Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA Nat Genet 1996;14:320-323
    • (1996) Nat Genet , vol.14 , pp. 320-323
    • Loe Ten Foe, J.R.1    Rooimans, M.A.2    Bosnoyan-Collins, L.3
  • 14
    • 10944239213 scopus 로고    scopus 로고
    • X-linked inheritance of Fanconi anemia complementation group B
    • Meetei AR, Levitus M, Xue Y, et al X-linked inheritance of Fanconi anemia complementation group B Nat Genet 2004;36:1219-1224
    • (2004) Nat Genet , vol.36 , pp. 1219-1224
    • Meetei, A.R.1    Levitus, M.2    Xue, Y.3
  • 15
    • 0026735882 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee CA, Gavish H, Shannon WR, Buchwald M Cloning of cDNAs for Fanconi's anaemia by functional complementation Nature 1992;358:434
    • (1992) Nature , vol.358 , pp. 434
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 16
    • 18444362122 scopus 로고    scopus 로고
    • Biallelic inactivation of BRCA2 in Fanconi anemia
    • Howlett NG, Taniguchi T, Olson S, et al Biallelic inactivation of BRCA2 in Fanconi anemia Science 2002;297:534
    • (2002) Science , vol.297 , pp. 534
    • Howlett, N.G.1    Taniguchi, T.2    Olson, S.3
  • 17
    • 17744394476 scopus 로고    scopus 로고
    • Positional cloning of a novel Fanconi anemia gene, FANCD2
    • Timmers C, Taniguchi T, Hejna J, et al Positional cloning of a novel Fanconi anemia gene, FANCD2 Mol Cell 2001;7:241-248
    • (2001) Mol Cell , vol.7 , pp. 241-248
    • Timmers, C.1    Taniguchi, T.2    Hejna, J.3
  • 18
    • 0033989248 scopus 로고    scopus 로고
    • The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
    • DeWinter JP, Rooimans MA, VanDerWeel I, et al The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM Nat Genet 2000;24:15-16
    • (2000) Nat Genet , vol.24 , pp. 15-16
    • DeWinter, J.P.1    Rooimans, M.A.2    VanDerWeel, I.3
  • 19
    • 34249332276 scopus 로고    scopus 로고
    • Identification of the Fanconi anemia complementation group I gene, FANCI
    • Dorsman JC, Levitus M, Rockx D, et al Identification of the Fanconi anemia complementation group I gene, FANCI Cell Oncol 2007;29:181-182
    • (2007) Cell Oncol , vol.29 , pp. 181-182
    • Dorsman, J.C.1    Levitus, M.2    Rockx, D.3
  • 20
    • 34249281152 scopus 로고    scopus 로고
    • FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
    • Sims AE, Spiteri E, Sims RJ 3rd, et al FANCI is a second monoubiquitinated member of the Fanconi anemia pathway Nat Struct Mol Biol 2007; 14:564- 567
    • (2007) Nat Struct Mol Biol , vol.14 , pp. 564-567
    • Sims, A.E.1    Spiteri, E.2    Sims 3rd, R.J.3
  • 21
    • 34247110291 scopus 로고    scopus 로고
    • Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair
    • Smogorzewska A, Matsuoka S, Vinciguerra P, et al Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair Cell 2007;129:289-301
    • (2007) Cell , vol.129 , pp. 289-301
    • Smogorzewska, A.1    Matsuoka, S.2    Vinciguerra, P.3
  • 22
    • 25144457604 scopus 로고    scopus 로고
    • The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
    • Levitus M, Waisfisz Q, Godthelp BC, et al The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J Nat Genet 2005;37: 934-935
    • (2005) Nat Genet , vol.37 , pp. 934-935
    • Levitus, M.1    Waisfisz, Q.2    Godthelp, B.C.3
  • 23
    • 25144497571 scopus 로고    scopus 로고
    • The BRCAl-interacting helicase BRIP1 is deficient in Fanconi anemia
    • Levran O, Attwooll C, Henry RT, et al The BRCAl-interacting helicase BRIP1 is deficient in Fanconi anemia Nat Genet 2005;37:931-933
    • (2005) Nat Genet , vol.37 , pp. 931-933
    • Levran, O.1    Attwooll, C.2    Henry, R.T.3
  • 24
    • 24944575242 scopus 로고    scopus 로고
    • BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ Cancer
    • Litman R, Peng M, Jin Z, et al BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ Cancer Cell 2005;8:255-265
    • (2005) Cell , vol.8 , pp. 255-265
    • Litman, R.1    Peng, M.2    Jin, Z.3
  • 25
    • 0141484612 scopus 로고    scopus 로고
    • A novel ubiquitin ligase is deficient in Fanconi anemia
    • Meetei AR, DeWinter JP, Medhurst AL, et al A novel ubiquitin ligase is deficient in Fanconi anemia Nat Genet 2003;35:165-170
    • (2003) Nat Genet , vol.35 , pp. 165-170
    • Meetei, A.R.1    DeWinter, J.P.2    Medhurst, A.L.3
  • 26
    • 25144449181 scopus 로고    scopus 로고
    • A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
    • Meetei AR, Medhurst AL, Ling C, et al A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M Nat Genet 2005;37:958-963
    • (2005) Nat Genet , vol.37 , pp. 958-963
    • Meetei, A.R.1    Medhurst, A.L.2    Ling, C.3
  • 27
    • 33846569450 scopus 로고    scopus 로고
    • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    • Reid S, Schindler D, Hanenberg H, et al Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer Nat Genet 2007;39:162-164
    • (2007) Nat Genet , vol.39 , pp. 162-164
    • Reid, S.1    Schindler, D.2    Hanenberg, H.3
  • 28
    • 33846601829 scopus 로고    scopus 로고
    • Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
    • Xia B, Dorsman JC, Ameziane N, et al Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 Nat Genet 2007;39:159-161
    • (2007) Nat Genet , vol.39 , pp. 159-161
    • Xia, B.1    Dorsman, J.C.2    Ameziane, N.3
  • 29
    • 7344253051 scopus 로고    scopus 로고
    • Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer
    • Pulsipher M, Kupfer GM, Naf D, et al Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer Mol Med 1998;4:468-479
    • (1998) Mol Med , vol.4 , pp. 468-479
    • Pulsipher, M.1    Kupfer, G.M.2    Naf, D.3
  • 30
    • 18444378426 scopus 로고    scopus 로고
    • Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool
    • Hanenberg H, Batish SD, Pollok KE, et al Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool Exp Hematol 2002;5:410-420
    • (2002) Exp Hematol , vol.5 , pp. 410-420
    • Hanenberg, H.1    Batish, S.D.2    Pollok, K.E.3
  • 31
    • 13444253745 scopus 로고    scopus 로고
    • Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study
    • Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study Hum Mutat 2005;25:142-149
    • (2005) Hum Mutat , vol.25 , pp. 142-149
    • Levran, O.1    Diotti, R.2    Pujara, K.3    Batish, S.D.4    Hanenberg, H.5    Auerbach, A.D.6
  • 32
    • 24944574674 scopus 로고    scopus 로고
    • A rapid method for retrovirus- mediated identification of complementation groups in Fanconi anemia patients Mol Ther
    • Jurickova 1, et al
    • Chandra S, Levran O, Jurickova 1, et al A rapid method for retrovirus- mediated identification of complementation groups in Fanconi anemia patients Mol Ther 2005;12:976-984
    • (2005) , vol.12 , pp. 976-984
    • Chandra, S.1    Levran, O.2
  • 33
    • 34247147609 scopus 로고    scopus 로고
    • A comprehensive strategy for the subtyping of patients with Fanconi anaemia: Conclusions from the Spanish Fanconi Anemia Research Network
    • Casado JA, Callen E, Jacome A, Rio P A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network J Med Genet 2007;44:241-249
    • (2007) J Med Genet , vol.44 , pp. 241-249
    • Casado, J.A.1    Callen, E.2    Jacome, A.3    Rio, P.4
  • 34
    • 0029410634 scopus 로고    scopus 로고
    • Buchwald M Complementation groups: one or more per gene? Nat Genet 1995;11:228-230
    • Buchwald M Complementation groups: one or more per gene? Nat Genet 1995;11:228-230
  • 35
    • 17544391773 scopus 로고    scopus 로고
    • The genomic organization of the Fanconi anemia group A (FAA) gene
    • lanzano L, D'Apolito M, Centra M, et al The genomic organization of the Fanconi anemia group A (FAA) gene Genomics 1997;41:309-314
    • (1997) Genomics , vol.41 , pp. 309-314
    • lanzano, L.1    D'Apolito, M.2    Centra, M.3
  • 36
    • 0032898006 scopus 로고    scopus 로고
    • Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
    • Wijker M, Morgan NV, Herterich S, et al Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene Eur J Hum Genet 1999;7: 52-59
    • (1999) Eur J Hum Genet , vol.7 , pp. 52-59
    • Wijker, M.1    Morgan, N.V.2    Herterich, S.3
  • 37
    • 20944440508 scopus 로고    scopus 로고
    • A common Fanconi anemia mutation in black populations of sub-Saharan Africa
    • Morgan NV, Essop F, Demuth I, et al A common Fanconi anemia mutation in black populations of sub-Saharan Africa Blood 2005;105:3542-3544
    • (2005) Blood , vol.105 , pp. 3542-3544
    • Morgan, N.V.1    Essop, F.2    Demuth, I.3
  • 38
    • 20944450700 scopus 로고    scopus 로고
    • Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation Bras
    • Magdalena N, Pilonetto DV, Bitencourt MA, et al Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation Bras J Med Biol Res 2005;38:669- 673
    • (2005) J Med Biol Res , vol.38 , pp. 669-673
    • Magdalena, N.1    Pilonetto, D.V.2    Bitencourt, M.A.3
  • 39
    • 2642529331 scopus 로고    scopus 로고
    • Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients
    • Callen E, Tischkowitz MD, Creus A, et al Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients Cytogenet Genome Res 2004;104:341-345
    • (2004) Cytogenet Genome Res , vol.104 , pp. 341-345
    • Callen, E.1    Tischkowitz, M.D.2    Creus, A.3
  • 40
    • 10844222797 scopus 로고    scopus 로고
    • Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population
    • Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population Hum Mut 2004;24:481- 490
    • (2004) Hum Mut , vol.24 , pp. 481-490
    • Yagasaki, H.1    Hamanoue, S.2    Oda, T.3    Nakahata, T.4    Asano, S.5    Yamashita, T.6
  • 41
    • 8544271687 scopus 로고    scopus 로고
    • Fanconi anemia in Ashkenazi Jews
    • Kutler DI, Auerbach AD Fanconi anemia in Ashkenazi Jews Fam Cancer 2004;3:241-248
    • (2004) Fam Cancer , vol.3 , pp. 241-248
    • Kutler, D.I.1    Auerbach, A.D.2
  • 42
    • 0041971230 scopus 로고    scopus 로고
    • high prevalence of group A and identification of new FANCA mutations
    • et al Tunisian Fanconi Anemia Study Group Fanconi anemia in Tunisia
    • Bouchlaka C, Abdelhak S, Amouri A, et al Tunisian Fanconi Anemia Study Group Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations J Hum Genet 2003;48:352-361
    • (2003) J Hum Genet , vol.48 , pp. 352-361
    • Bouchlaka, C.1    Abdelhak, S.2    Amouri, A.3
  • 43
    • 11144353533 scopus 로고    scopus 로고
    • Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs
    • Tamary H, Dgany O, Toledano H, et al Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs Eur J Haematol 2004;72: 330-335
    • (2004) Eur J Haematol , vol.72 , pp. 330-335
    • Tamary, H.1    Dgany, O.2    Toledano, H.3
  • 44
    • 0031440867 scopus 로고    scopus 로고
    • Mutations of the Fanconi anemia group A gene (FAA) in Italian patients
    • Savino M, lanzano L, Strippoli P, et al Mutations of the Fanconi anemia group A gene (FAA) in Italian patients Am J Hum Genet 1997;61:1246- 1253
    • (1997) Am J Hum Genet , vol.61 , pp. 1246-1253
    • Savino, M.1    lanzano, L.2    Strippoli, P.3
  • 45
    • 0033025041 scopus 로고    scopus 로고
    • The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability
    • Tachibana A, Kato T, Ejima Y, et al The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability Hum Mut 1999;13:237-244
    • (1999) Hum Mut , vol.13 , pp. 237-244
    • Tachibana, A.1    Kato, T.2    Ejima, Y.3
  • 46
    • 0033764862 scopus 로고    scopus 로고
    • Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients
    • Tamary H, Bar-Yam R, Shalmon L, et al Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients Br J Haematol 2000;111:338-343
    • (2000) Br J Haematol , vol.111 , pp. 338-343
    • Tamary, H.1    Bar-Yam, R.2    Shalmon, L.3
  • 47
    • 2142805258 scopus 로고    scopus 로고
    • Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant
    • Savino M, Bordello A, D'Apolito M, et al Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant Hum Mut 2003;22:338-339
    • (2003) Hum Mut , vol.22 , pp. 338-339
    • Savino, M.1    Bordello, A.2    D'Apolito, M.3
  • 48
    • 38149088139 scopus 로고    scopus 로고
    • Genetic subtyping of Fanconi anemia by comprehensive mutation screening
    • Ameziane N, Errami A, Leveille F, et al Genetic subtyping of Fanconi anemia by comprehensive mutation screening Hum Mut 2008;29:159-166
    • (2008) Hum Mut , vol.29 , pp. 159-166
    • Ameziane, N.1    Errami, A.2    Leveille, F.3
  • 50
    • 0032144186 scopus 로고    scopus 로고
    • Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions
    • Centra M, Memeo E, d'Apolito M, et al Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions Genomics 1998;51:463-467
    • (1998) Genomics , vol.51 , pp. 463-467
    • Centra, M.1    Memeo, E.2    d'Apolito, M.3
  • 51
    • 0030293337 scopus 로고    scopus 로고
    • The Fanconi anemia/breast cancer consortium Positional cloning of the Fanconi anaemia group A gene Nat Genet 1996;14:324-328
    • The Fanconi anemia/breast cancer consortium Positional cloning of the Fanconi anaemia group A gene Nat Genet 1996;14:324-328
  • 52
    • 0028068579 scopus 로고
    • Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry Study
    • Butturini A, Gale RP, Verlander PC, Adler-Brecher B Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry Study Blood 1994;84:1650-1655
    • (1994) Blood , vol.84 , pp. 1650-1655
    • Butturini, A.1    Gale, R.P.2    Verlander, P.C.3    Adler-Brecher, B.4
  • 53
    • 0036900018 scopus 로고    scopus 로고
    • Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants Hum
    • Adachi D, Oda T, Yagasaki H, et al Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants Hum Mol Genet 2002; 11:3125-3134
    • (2002) Mol Genet , vol.11 , pp. 3125-3134
    • Adachi, D.1    Oda, T.2    Yagasaki, H.3
  • 54
    • 63449133562 scopus 로고    scopus 로고
    • Tachibana A Mutational analyses of Fanconi anemia genes in Japanese patients In: Shamim Ahmad, Sandra Kirk, editors Molecular mechanisms of Fanconi anemia New York: Springer, 2006:103-114
    • Tachibana A Mutational analyses of Fanconi anemia genes in Japanese patients In: Shamim Ahmad, Sandra Kirk, editors Molecular mechanisms of Fanconi anemia New York: Springer, 2006:103-114
  • 55
    • 0031902327 scopus 로고    scopus 로고
    • Identification of Alu-mediated deletions in the Fanconi anemia gene FAA
    • Levran O, Doggett NA, Auerbach AD Identification of Alu-mediated deletions in the Fanconi anemia gene FAA Hum Mut 1998;12:145-152
    • (1998) Hum Mut , vol.12 , pp. 145-152
    • Levran, O.1    Doggett, N.A.2    Auerbach, A.D.3
  • 56
    • 0033361938 scopus 로고    scopus 로고
    • Morgan NV, Tipping AJ, Joenje H, Mathew CG High frequency of large intragenic deletions in the Fanconi anemia group A gene Am J Hum Genet 1999;65:1330-1341 56 Ausubel FJ, Brent R, Kingston RE, et al Short protocols in molecular biology New York: Wiley, 1992
    • Morgan NV, Tipping AJ, Joenje H, Mathew CG High frequency of large intragenic deletions in the Fanconi anemia group A gene Am J Hum Genet 1999;65:1330-1341 56 Ausubel FJ, Brent R, Kingston RE, et al Short protocols in molecular biology New York: Wiley, 1992
  • 57
    • 0019378276 scopus 로고
    • Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia
    • Cervenka J, Arthur D, Yasis C Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia Pediatrics 1981;67:119-27
    • (1981) Pediatrics , vol.67 , pp. 119-127
    • Cervenka, J.1    Arthur, D.2    Yasis, C.3
  • 58
    • 0019365249 scopus 로고
    • Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method
    • Auerbach AD, Adler B, Chaganti RS Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method Pediatrics 1981;67:128-135
    • (1981) Pediatrics , vol.67 , pp. 128-135
    • Auerbach, A.D.1    Adler, B.2    Chaganti, R.S.3
  • 59
    • 63449135720 scopus 로고    scopus 로고
    • Fanconi Anemia Mutation Database Available at: http://www rockefeller edu/ fanconi/mutate/jumpa html Accessed September 2008
    • Fanconi Anemia Mutation Database Available at: http://www rockefeller edu/ fanconi/mutate/jumpa html Accessed September 2008
  • 60
    • 63449094358 scopus 로고    scopus 로고
    • SNP linked to Gene FANCA (geneH);2175) Via Contig Annotation Available at: http://www ncbi http://www.ncbi.nlm.mh.gov/SNP/snp-ref.cgi?locusId= 2175&chooseRs=al#17232623. Accessed February 2008
    • SNP linked to Gene FANCA (geneH);2175) Via Contig Annotation Available at: http://www ncbi http://www.ncbi.nlm.mh.gov/SNP/snp-ref.cgi?locusId= 2175&chooseRs=al#17232623. Accessed February 2008
  • 61
    • 63449086927 scopus 로고    scopus 로고
    • The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff Available at: http://www hgmd cf ac uk/ac/all php Accessed February 2008
    • The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff Available at: http://www hgmd cf ac uk/ac/all php Accessed February 2008
  • 62
    • 63449114185 scopus 로고    scopus 로고
    • Fanconi Anemia database Fanconi anemia, complementation group A Leiden Open Variation Database (LOVD) Available at: http://chromium liacs nl/ LOVD2/FANC/home php?select-db=FANCA Accessed September 2008
    • Fanconi Anemia database Fanconi anemia, complementation group A Leiden Open Variation Database (LOVD) Available at: http://chromium liacs nl/ LOVD2/FANC/home php?select-db=FANCA Accessed September 2008
  • 63
    • 0035282695 scopus 로고    scopus 로고
    • GeneSplicer: A new computational method for splice site prediction
    • tigr org/tdb/GeneSplicer/gene-spl html, Available at
    • Pertea M, Lin X, Salzberg SL GeneSplicer: a new computational method for splice site prediction Nucleic Acids Res 2001;29:1185-1190 Available at: http://www tigr org/tdb/GeneSplicer/gene-spl html
    • (2001) Nucleic Acids Res , vol.29 , pp. 1185-1190
    • Pertea, M.1    Lin, X.2    Salzberg, S.L.3
  • 64
    • 0030787520 scopus 로고    scopus 로고
    • Improved splice site detection in Genie
    • fruitfly org/ seq-tools/splice html, Available at
    • Reese MG, Eeckman FH, Kulp D, Haussler D Improved splice site detection in Genie J Comp Biol 1997;4:311-323 Available at: http://www fruitfly org/ seq-tools/splice html
    • (1997) J Comp Biol , vol.4 , pp. 311-323
    • Reese, M.G.1    Eeckman, F.H.2    Kulp, D.3    Haussler, D.4
  • 65
    • 0025744474 scopus 로고
    • Prediction of human mRNA donor and acceptor sites from the DNA sequence
    • cbs dtu dk/services/NetGene2/, Available at
    • Brunak S, Engelbrecht J, Knudsen S Prediction of human mRNA donor and acceptor sites from the DNA sequence J Mol Biol 1991;220:49-65 Available at: http://www cbs dtu dk/services/NetGene2/
    • (1991) J Mol Biol , vol.220 , pp. 49-65
    • Brunak, S.1    Engelbrecht, J.2    Knudsen, S.3
  • 66
    • 0029009677 scopus 로고
    • Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
    • Rogan PK, Schneider TD Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites Hum Mut 1995;6:74-76
    • (1995) Hum Mut , vol.6 , pp. 74-76
    • Rogan, P.K.1    Schneider, T.D.2
  • 67
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • fhcrc org/sift/SIFT html, Available at
    • Ng PC, Henikoff S Accounting for human polymorphisms predicted to affect protein function Genome Res 2002;12:436-446 Available at: http://blocks fhcrc org/sift/SIFT html
    • (2002) Genome Res , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 68
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • bwh harvard edu/pph/, Available at
    • Ramensky V, Bork P, Sunyaev S Human non-synonymous SNPs: server and survey Nucleic Acids Res 2002;30:3894-3900 Available at: http://genetics bwh harvard edu/pph/
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 69
    • 0026591707 scopus 로고
    • Monozygotic twin girls with congenital malformations resembling fanconi anemia
    • Poole SR, Smith AC, Hays T, McGavran L, Auerbach AD Monozygotic twin girls with congenital malformations resembling fanconi anemia Am J Med Genet 1992;42:780-784
    • (1992) Am J Med Genet , vol.42 , pp. 780-784
    • Poole, S.R.1    Smith, A.C.2    Hays, T.3    McGavran, L.4    Auerbach, A.D.5
  • 70
    • 33645741745 scopus 로고    scopus 로고
    • Natural gene therapy in monozygotic twins with Fanconi anemia
    • Mankad A, Taniguchi T, Cox B, et al Natural gene therapy in monozygotic twins with Fanconi anemia Blood 2006;107:3084-3090
    • (2006) Blood , vol.107 , pp. 3084-3090
    • Mankad, A.1    Taniguchi, T.2    Cox, B.3
  • 71
    • 63449088791 scopus 로고    scopus 로고
    • Transcriptional behavior of DMD gene duplications in DMD/BMD males
    • Gualandi F, Neri M, Bovolenta M, et al Transcriptional behavior of DMD gene duplications in DMD/BMD males Hum Mutat 2008;29:E310-E319
    • (2008) Hum Mutat , vol.29
    • Gualandi, F.1    Neri, M.2    Bovolenta, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.