The X-linked bleeding disorder hemophilia A is caused by mutations in the coagulation factor VIII gene. A high frequency of de novo mutations and the large size of this gene complicate the molecular diagnostic of hemophilia A. Characterization of mutations, however, may help identify amino acids or
Small FVIII gene rearrangements in 18 hemophilia A patients: Five novel mutations
β Scribed by Maria Patrizia Bicocchi; Mirella Pasino; Tiziana Lanza; Federico Bottini; Angelo Claudio Molinari; Daniela Caprino; Camillo Rosano; Maura Acquila
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 139 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0361-8609
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