title: Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
abstract: Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
authors.forename: C B
authors.initials: CB
authors.lastname: Grundy
authors.forename: S
authors.initials: S
authors.lastname: Schulman
authors.forename: L
authors.initials: L
authors.lastname: Tengborn
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D011486:Protein C; D001120:Arginine