title: A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.
abstract: A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.
authors: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
authors: D S
authors: DS
authors: Millar
authors: C B
authors: CB
authors: Grundy
authors: P
authors: P
authors: Bignell
authors: D C
authors: DC
authors: Mitchell
authors: D
authors: D
authors: Corden
authors: P
authors: P
authors: Woods
authors: V V
authors: VV
authors: Kakkar
authors: D N
authors: DN
authors: Cooper
mesh_terms: D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D011486:Protein C