The CDC hemophilia B mutation project mutation list: A new online resource

Molecular Genetics and Genomic Medicine

Volumn 1, Issue 4, 2013, Pages 238-245

  Li, Tengguo ^a   Miller, Connie H ^a   Payne, Amanda B ^a   Hooper, W Craig ^a  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

F9 gene; Hemophilia B; Mutation database

Indexed keywords

EID: 84897468731     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.30     Document Type: Article

References (18)

1. Anson, D. S., K. H. Choo, D. J. Rees, F. Giannelli, K. Gould, J. A. Huddleston, et al. 1984. The gene structure of human anti-haemophilic factor IX. EMBO J. 3:1053–1060.
2. Bentley, A. K., D. J. Rees, C. Rizza, and G. G. Brownlee. 1986. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Cell 45:343–348.
3. Bolton-Maggs, P. H., and K. J. Pasi. 2003. Haemophilias A and B. Lancet 361:1801–1809.
4. Bowen, D. J. 2002. Haemophilia A and haemophilia B: molecular insights. Mol. Pathol. 55:1–18.
5. Briet, E., R. M. Bertina, N. H. van Tilburg, and J. J. Veltkamp. 1982. Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty. N. Engl. J. Med. 306:788–790.
6. Chavali, S., A. Mahajan, S. Ghosh, B. Mondal, and D. Bharadwaj. 2011. Protein molecular function influences mutation rates in human genetic diseases with allelic heterogeneity. Biochem. Biophys. Res. Commun. 412:716–722.
7. DiMichele, D. 2007. Inhibitor development in haemophilia B: an orphan disease in need of attention. Br. J. Haematol. 138:305–315.
8. Giannelli, F., P. M. Green, S. S. Sommer, M. Poon, M. Ludwig, R. Schwaab, et al. 1998. Haemophilia B: database of point mutations and short additions and deletions–eighth edition. Nucleic Acids Res. 26:265–268.
9. Kurachi, K., and E. W. Davie. 1982. Isolation and characterization of a cDNA coding for human factor IX. Proc. Natl. Acad. Sci. USA 79:6461–6464.
10. Miller, C. H., J. Benson, D. Ellingsen, J. Driggers, A. Payne, F. M. Kelly, et al., Hemophilia Inhibitor Research Study I. 2012. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia 18:375–382.
11. Payne, A. B., C. H. Miller, F. M. Kelly, J. M. Soucie, and W. Craig Hooper. 2013. The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource. Hum. Mutat. 34:E2382–E2391.
12. Radic, C. P., L. C. Rossetti, M. M. Abelleyro, M. Candela, R. Perez Bianco, M. de Tezanos Pinto, et al. 2013. Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. Thromb. Haemost. 109:24–33.
13. Reijnen, M. J., K. Peerlinck, D. Maasdam, R. M. Bertina, and P. H. Reitsma. 1993. Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter. Blood 82:151–158.
14. Roberts, H. R. 1993. Molecular biology of hemophilia B. Thromb. Haemost. 70:1–9.
15. Taran, L. D. 1997. Factor IX of the blood coagulation system: a review. Biochemistry (Mosc) 62:685–693.
16. White, G. C. II, F. Rosendaal, L. M. Aledort, J. M. Lusher, C. Rothschild, J. Ingerslev, et al. 2001. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb. Haemost. 85:560.
17. Yoshitake, S., B. G. Schach, D. C. Foster, E. W. Davie, and K. Kurachi. 1985. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24:3736–3750.
18. Zhong, D., M. S. Bajaj, A. E. Schmidt, and S. P. Bajaj. 2002. The N-terminal epidermal growth factor-like domain in factor IX and factor X represents an important recognition motif for binding to tissue factor. J. Biol. Chem. 277:3622–3631.