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

doi:10.1007/BF00221964

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Article

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

Human genetics - 1 Aug 1992

Grundy C B, Schulman S, Tengborn L, Kakkar V V, Cooper D N

Abstract excerpt

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.

Topics

Arginine
Base Sequence
Exons
Female
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Protein C
Protein C Deficiency
Recurrence
Thrombophlebitis

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