Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the structure, function or stability of the protein C molecules encoded.
Millar
D S
DS
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Bevan
D
D
Chitolie
A
A
Reynaud
J
J
Chisholm
M
M
Kakkar
V V
VV
Cooper
D N
DN
D000293:Adolescent; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D013924:Thrombophlebitis / Q000235:genetics*
D011486:Protein C