A novel homozygous missense mutation in the protei...[Hum Genet. 1992]

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1: Hum Genet. 1992 Aug;89(6):683-4.Links

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

Grundy CB, Chisholm M, Kakkar VV, Cooper DN.

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

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

PMID: 1511988 [PubMed - indexed for MEDLINE]

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
Hum Genet. 1992 Aug; 89(6):685-6.

[Hum Genet. 1992]
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]
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]
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]
ReviewActivated protein C resistance--a major risk factor for thrombosis.
Eur J Clin Chem Clin Biochem. 1997 Jul; 35(7):501-16.

[Eur J Clin Chem Clin Biochem. 1997]
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A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

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