Haemophilia A mutations in the UK: results of screening one-third of the population
β Scribed by P. M. Green; R. D. Bagnall; N. H. Waseem; F. Giannelli
- Book ID
- 108675921
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 519 KB
- Volume
- 143
- Category
- Article
- ISSN
- 0007-1048
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Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor V
A combination of Southern blotting and the analysis of polymerase chain reaction (PCR) amplified DNA fragments was used to screen the factor VIII genes of 527 haemophilia A patients for point mutations within TaqI restriction sites. Since this "directed search" strategy yielded only four gene lesion