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Article

Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.

Thrombosis and haemostasis - 1 Oct 1998

Couture P, Demers C, Morissette J, Delage R, Jomphe M, Couture L, Simard J

Abstract excerpt

Protein C (PROC) deficiency is one of the most common autosomal codominant diseases. Although more than 150 germline mutations in the PROC gene have been described around the world, the spectrum of mutations among French Canadians is unknown. We have identified one frameshift (3363 ins C) and two missense mutations (R178Q and T298M) in 7 French Canadian families with type I PROC deficiency. In order to...

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PMID: 9798967

Genes

PROC

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Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.PMID 9798967Read ↗

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