Article
Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2021
Nojehdeh Somayeh Takrim, Mojbafan Marzieh, Masoodifard Mahboobeh, Amini Masoume, Zeinali Sirous
Abstract excerpt
Congenital afibrinogenemia is a rare autosomal recessive disorder that is caused by defects in the fibrinogen. Fibrinogen is a hexameric glycoprotein made of two pairs of three homologous polypeptide chains including Aα, Bβ, and γ that are encoded by three genes named FGA, FGB, and FGG. We aim to study four Iranian families who were referred to our lab for molecular diagnosis of afibrinogenemia. Genomic DNA was...
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