title: Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
abstract: 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.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: D
authors.initials: D
authors.lastname: Bevan
authors.forename: A
authors.initials: A
authors.lastname: Chitolie
authors.forename: J
authors.initials: J
authors.lastname: Reynaud
authors.forename: M
authors.initials: M
authors.lastname: Chisholm
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D011486:Protein C