Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
Grundy C.B.; Schulman S.; Tengborn L.; Kakkar V.V.; Cooper D.N.;
Hum. Genet. 89:685-686(1992)
Cited for: VARIANTS THPH3 GLN-220 AND TRP-220;
Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
Gandrille S.; Vidaud M.; Aiach M.; Alhenc-Gelas M.; Fischer A.M.; Gouault-Heilman M.; Toulon P.; Fiessinger J.-N.; Goossens M.;
Hum. Mutat. 1:491-500(1992)
Cited for: VARIANT THPH3 GLN-220;
Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
Couture P.; Demers C.; Morissette J.; Delage R.; Jomphe M.; Couture L.; Simard J.;
Thromb. Haemost. 80:551-556(1998)
Cited for: VARIANTS THPH3 GLN-220 AND MET-340;
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