A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A
✍ Scribed by Khédoudja Nafa; Marlène Baudis; Nathalie Deburgrave; Jean-Michel Bardin; Yvette Sultan; Jean-Claude Kaplan; Marc Delpech
- Book ID
- 102258881
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 156 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1059-7794
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Hemophilia A (HA) is an X-linked hereditary bleeding disorder defined by a qualitative and/or quantitative factor VIII (FVIII) deficiency. The molecular diagnosis of HA is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. The p
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