Subtyping of Fanconi anemia patients: Implications for clinical management [4]

Blood

Volumn 102, Issue 9, 2003, Pages 3459-

  Shimamura, Akiko ^b   D'Andrea, Alan D ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BUTADIENE DIEPOXIDE; MITOMYCIN C;

ANEMIA; CLINICAL LABORATORY; DIAGNOSTIC TEST; FANCONI ANEMIA; GENE MUTATION; GENOTYPE; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL;

EID: 0142152417     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-04-1297     Document Type: Letter

References (8)

1. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391-396.
2. Faivre L, Guardiola P, Lewis C, et al. Association of complementation group and mutation type with clinical outcome in fanconi anemia. Blood. 2000;96: 4064-4070.
3. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297:606-609.
4. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91:1310-1316.
5. Nakanishi K, Taniguchi T, Ranganathan V, et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol. 2002;4:913-920.
6. 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.
7. Shimamura A, de Oca RM, Svenson JL, et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood. 2002;100:4649-4654.
8. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet. 1993;4:202-205.