Article
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.
Blood - 1 Nov 2002
Fregin Andreas, Rost Simone, Wolz Werner, Krebsova Alice, Muller Clemens R, Oldenburg Johannes
Abstract excerpt
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. The phenotypic presentation is variable with respect to the residual activities of the affected proteins, its response to oral administration of vitamin K, and to the involvement of skeletal abnormalities. The disease may result either...
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