Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-Dependent clotting factors (FMFD) to chromosome 16

Abstrakt

Familial multiple coagulation factor deficiency (FMFD) of factors II, VII, IX, X, protein C and protein S is a very rare bleeding disorder with autosomal recessive inheritance [1]. The disease may result either from a defective resorption/transport of vitamin K to the liver, or from a mutation in one of the genes encoding gamma-carboxylase (GGCX) or other proteins of the Vitamin K 2,3-epoxide reductase.

Klíčová slova

• Autosomal Recessive Inheritance
• Homozygosity Mapping
• Combine Deficiency
• Microsomal Epoxide Hydrolase
• Candidate Interval