Three novel PROC gene lesions causing protein C deficiency

P. J. Hallam, P. Mannucci, A. Tripodi, D. Bevan, B. Laursen, L. Tengborn, A. Wacey, D. N. Cooper

Research output: Contribution to journalArticlepeer-review

Abstract

Missense mutations, three of them novel (Asn210→Val, Asn248→Ile, Ala355→Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.

Original languageEnglish
Pages (from-to)231-233
Number of pages3
JournalClinical Genetics
Volume54
Issue number3
Publication statusPublished - Sep 1998

Keywords

  • Gene mutations
  • Protein C deficiency
  • Venous thrombosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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