Article
Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity
1 Sept 1995
Abstract excerpt
We have characterized the factor V protein and cDNA of a patient displaying factor V deficiency (parahemophilia) and correlated the reduced activity with a missense mutation of Ala221-to-Val. Plasma from the subject individual (C1) presented reduced factor V antigen (39% of normal) that displayed reduced activity (approximately 26% of normal). Factor V purified from this individual by standard techniques shows...
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