Human mutation, 1995, Vol.5 (1), p.1-22
1995
Details
- Autor(en) / Beteiligte
- Titel
- Molecular etiology of factor VIII deficiency in hemophilia A
- Ist Teil von
- Human mutation, 1995, Vol.5 (1), p.1-22
- Ort / Verlag
- New York: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 1995
- Link zum Volltext
- Quelle
- Wiley-Blackwell Journals
- Beschreibungen/Notizen
- Hemophilia is a common X‐linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients vvith severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance. © 1995 Wiley‐Liss, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1059-7794eISSN: 1098-1004DOI: 10.1002/humu.1380050102Titel-ID: cdi_proquest_miscellaneous_77233101
- Format
- –
- Schlagworte
- Amino Acid Sequence, Base Sequence, Binding Sites - genetics, Chromosome Mapping, DNA - genetics, DNA Mutational Analysis, Factor VIII - chemistry, Factor VIII - genetics, Factor VIII - metabolism, factor VIII deficiency, Factor VIII gene, Female, Gene Rearrangement, Hemophilia A, Hemophilia A - genetics, Humans, Male, man, mutant rates, Mutation, mutation frequency, Point Mutation, Polymorphism, Genetic, Retroelements, Sequence Deletion, X Chromosome - ultrastructure