title: Three novel PROC gene lesions causing protein C deficiency.
abstract: Missense mutations, three of them novel (Asn210-->Val, Asn248-->Ile, Ala355-->Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.
authors.affiliation: Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Hallam
authors.forename: P
authors.initials: P
authors.lastname: Mannucci
authors.forename: A
authors.initials: A
authors.lastname: Tripodi
authors.forename: D
authors.initials: D
authors.lastname: Bevan
authors.forename: B
authors.initials: B
authors.lastname: Laursen
authors.forename: L
authors.initials: L
authors.lastname: Tengborn
authors.forename: A
authors.initials: A
authors.lastname: Wacey
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics*
chemical_list: D011486:Protein C