Article
Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 1996
Soria J M, Morell M, Nicolau I, Estivill X, Sala N
Abstract excerpt
We report the results of protein C gene (PROC) analysis in a Spanish family with hereditary PC deficiency characterized by the presence of three siblings with PC anticoagulant activity levels clearly below 50% of normal and PC antigen and amidolytic activities between 50 and 75% of normal. Their parents are first cousins and have PC levels between 50 and 80% of normal. Sequence analysis of the whole coding...
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