Article
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.
Diagnostic pathology - 10 Aug 2012
Elmahmoudi Hejer, Khodjet-el-khil Houssein, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied Amel Ben Ammar, Gouider Emna
Abstract excerpt
INTRODUCTION: Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. Molecular studies of these mutations are essential...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- Computational Biology
- DNA Mutational Analysis
- Databases, Genetic
- Exons
- Factor VIII