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

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

doi:10.1007/BF00221963

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

Hum Genet. 1992 Aug;89(6):683-4. doi: 10.1007/BF00221963.

Authors

C B Grundy¹, M Chisholm, V V Kakkar, D N Cooper

Affiliation

¹ Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.

PMID: 1511988
DOI: 10.1007/BF00221963

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

Protein C