Article
Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2011
Elmahmoudi H, Wigren E, Laatiri A, Jlizi A, Elgaaied A, Gouider E, Lindqvist Y
Abstract excerpt
Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive disorder characterized by mild-to-moderate bleeding and reduction in FV and FVIII levels in plasma. F5F8D is caused by mutations in one of two different genes, LMAN1 and MCFD2, which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to the Golgi...
Topics
- Black People
- Circular Dichroism
- DNA Mutational Analysis
- Exons
- Factor V Deficiency
- Female
- Genetic Predisposition to Disease
- Hemophilia A
- Humans
- Mutation