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

doi:10.1007/BF00221963

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Article

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

Human genetics - 1 Aug 1992

Grundy C B, Chisholm M, Kakkar V V, Cooper D N

Abstract excerpt

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 cond...

Topics

Base Sequence
Exons
Female
Homozygote
Humans
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Protein C
Recurrence
Thrombophlebitis

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