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Six different point mutations in seven Danish families with symptomatic protein C deficiency.

Thrombosis and haemostasis - 1 Feb 1995

Lind B, Schwartz M, Thorsen S

Abstract excerpt

Six different point mutations of the protein C gene are described in seven Danish families with protein C deficiency associated with an increased risk of venous thromboembolism. All affected family members are heterozygotes for the mutated protein C genotype. One mutation is a G2992-->A transition at position +5 in the 5' splice site of intron D. The other five mutations affect the protein coding region. One is a...

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PMID: 7792728

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