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

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

doi:10.1007/BF00221964

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

Hum Genet. 1992 Aug;89(6):685-6. doi: 10.1007/BF00221964.

Authors

C B Grundy¹, S Schulman, L Tengborn, V V Kakkar, D N Cooper

Affiliation

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

PMID: 1511989
DOI: 10.1007/BF00221964

Abstract

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.

Publication types

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

MeSH terms

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

Substances

Protein C
Arginine