Article
Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2012
Kim H-J, Chung H-S, Kim S K, Yoo K Y, Jung S-Y, Park I-A, Lee K-O, Kim S-H, Kim H-J
Abstract excerpt
Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by defects in the F8 gene encoding the coagulation factor VIII. Mutation analysis in HA is important to confirm the diagnosis, genotype-phenotype correlations and for genetic counselling and family study. The aim of this study was to detect causative mutations of F8 in severe HA patients in Korea and to correlate the mutation type with the risk...
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