Article
Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2009
Mota Leenam, Shetty Shrimati, Idicula-Thomas Susan, Ghosh Kanjaksha
Abstract excerpt
BACKGROUND: Congenital factor VII (FVII) deficiency is a rare coagulation deficiency caused due to defects in the FVII gene. METHODS: We analyzed 14 unrelated Indian patients with congenital FVII deficiency for mutations in FVII gene by conformation sensitive gel electrophoresis (CSGE) followed by DNA sequencing. RESULTS: A total of 11 different missense mutations were identified, of which 5 were novel...
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