Autosomal dominant protein C deficiency is caused by mutations of the PROC gene. In contrast to the recessively inherited form the mutations are so severe such that a single mutated allele causes a thrombophilia phenotype.
Clinical chemistry allows to distinguish three types of protein S deficiency: Type 1: The protein is reduced in plasma. Type 2: The protein concentration in plasma is normal but its activity reduced.[Error: Macro 'ref' doesn't exist]
When measuring plasma concentration, warfarin and other vitamin K antagonists have to be discontinued sufficiently enough.
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25. |
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OMIM.ORG article Omim 176860 |