The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK
β Scribed by A. M. Cumming; on behalf of the UK Haemophilia Centre Doctors' Organization (UKHCDO) Haemophilia Genetics Laboratory Network
- Book ID
- 109148754
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 216 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1538-7933
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Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene. The entire coding and essential sequences of the factor VIII gene were generated by a combination of genomic DNA amplification and long reverse transcription-polymerase chain reaction (long R
Hemophilia A is a common X-linked bleeding disorder caused by various types of mutations in the factor VIII gene F8C. The most common intron 22-inversion is responsible for about 40% of the severe hemophilia A cases while large deletions, point mutations and small (less than 100 bp) deletions or ins