Three novel PROC gene lesions causing protein C deficiency.
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.
Hallam
P J
PJ
Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.
Mannucci
P
P
Tripodi
A
A
Bevan
D
D
Laursen
B
B
Tengborn
L
L
Wacey
A
A
Cooper
D N
DN
D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics*
D011486:Protein C