Hum Genet. 1992 Aug;89(6):685-6.

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

Grundy CB, Schulman S, Tengborn L, Kakkar VV, Cooper DN.

Source

Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.

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.

PMID:: 1511989; [PubMed - indexed for MEDLINE]

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A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. [Hum Genet. 1992]
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
Grundy CB, Chisholm M, Kakkar VV, Cooper DN. Hum Genet. 1992 Aug; 89(6):683-4.
A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. [Blood Coagul Fibrinolysis. 1993]
A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
Millar DS, Grundy CB, Bignell P, Moffat EH, Martin R, Kakkar VV, Cooper DN. Blood Coagul Fibrinolysis. 1993 Apr; 4(2):345-7.
A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis. [Hum Genet. 1993]
A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.
Millar DS, Grundy CB, Bignell P, Mitchell DC, Corden D, Woods P, Kakkar VV, Cooper DN. Hum Genet. 1993 Mar; 91(2):196.
Review Protein C infusion in a patient with inherited protein C deficiency caused by two missense mutations: Arg 178 to Gln and Arg-1 to His. [Blood Coagul Fibrinolysis. 1995]
Review Protein C infusion in a patient with inherited protein C deficiency caused by two missense mutations: Arg 178 to Gln and Arg-1 to His.
Alhenc-Gelas M, Emmerich J, Gandrille S, Aubry ML, Benaily N, Fiessinger JN, Aiach M. Blood Coagul Fibrinolysis. 1995 Feb; 6(1):35-41.
Review Molecular genetics of familial venous thrombosis. [Br Med Bull. 1994]
Review Molecular genetics of familial venous thrombosis.
Cooper DN, Tuddenham EG. Br Med Bull. 1994 Oct; 50(4):833-50.

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Cited by 1 PubMed Central article

Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. [PLoS One. 2012]
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
Tang L, Guo T, Yang R, Mei H, Wang H, Lu X, Yu J, Wang Q, Hu Y. PLoS One. 2012; 7(4):e35773. Epub 2012 Apr 24.

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Hum Genet. 1992 Aug ;89(6):685-6.

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