Frequency of intron 1 and 22 inversions of factor VIII gene in Mexican patients with severe hemophilia A
✍ Scribed by Johanna Milena Mantilla-Capacho; Claudia Patricia Beltrán-Miranda; Hilda Luna-Záizar; Lilia Aguilar-López; María Amparo Esparza-Flores; Beatriz López-Guido; Rogelio Troyo-Sanromán; Ana Rebeca Jaloma-Cruz
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 93 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0361-8609
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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
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