Article
Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Nov 2018
Borhany Munira, Buthiau Delphine, Rousseau Florence, Guillot Olivier, Naveena Fatima, Abid Madiha, Shamsi Tahir, Giansily-Blaizot Muriel
Abstract excerpt
: Congenital factor X deficiency is a rare coagulation defect characterized by variable bleeding tendency. The aim of the study was to give a first insight of F10 gene mutations in Pakistani probands. Direct sequencing and/or next-generation sequencing was performed on the coding regions, boundaries and 5' and 3' untranslated regions of the F10 gene in five severe factor X-deficient patients from Pakistan. All...
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