Article
Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia.
Diagnostic pathology - 8 Aug 2012
Elmahmoudi Hejer, Ben-Lakhal Fatma, Elborji Wijden, Jlizi Asma, Zahra Kaouther, Sassi Rim, Zorgan Moez, Meddeb Balkis, Elgaaied Ben Ammar Amel, Gouider Emna
Abstract excerpt
Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection...
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