Article
Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity.
Thrombosis and haemostasis - 1 Jun 1994
Gaussem P, Gandrille S, Duchemin J, Emmerich J, Alhenc-Gelas M, Aillaud M F, Aiach M
Abstract excerpt
The protein C Gla domain was studied in six families presenting a type II hereditary deficiency characterized by low activity in a coagulation assay and normal activity in an amidolytic assay. Five of these mutations, previously described by our group, affected Arg-5, Arg-1, Arg 229 and Ser 252. We report here the first natural Glu 7 to Asp mutation in a sixth family. We evaluated the binding of the mutated...
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