Two different missense mutations at Arg 178 of the...[Hum Genet. 1992]

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

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.

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

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]

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
Hum Genet. 1992 Aug; 89(6):683-4.

[Hum Genet. 1992]
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 Apr; 4(2):345-7.

[Blood Coagul Fibrinolysis. 1993]
A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.
Hum Genet. 1993 Mar; 91(2):196.

[Hum Genet. 1993]
ReviewProtein 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 Feb; 6(1):35-41.

[Blood Coagul Fibrinolysis. 1995]
Review[Point mutation G-->A nucleotide 1691 factor V gene as a cause of developing thrombotic complications in a family with plasma resistance to activated protein C]
Pol Arch Med Wewn. 1996 May; 95(5):464-70.

[Pol Arch Med Wewn. 1996]
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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

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