Article
A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2004
Segal Avichai, Zivelin Ariella, Rosenberg Nurit, Ginsburg David, Shpilberg Ofer, Seligsohn Uri
Abstract excerpt
Combined deficiency of factor V and factor VIII is a rare autosomal recessive bleeding disorder that is caused by mutations in the LMAN1 or MCFD2 genes. These genes encode for proteins that form a complex that takes part in the transport of factor V and factor VIII from the endoplasmic reticulum to Golgi. Two mutations in LMAN1 have been observed in Jews: a guanine (G) insertion in exon 1 among Middle Eastern...
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