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Article

Three novel mutations in the protein C (PROC) gene causing venous thrombosis.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 1995

Millar D S, Bevan D, Chitolie A, Reynaud J, Chisholm M, Kakkar V V, Cooper D N

Abstract excerpt

Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the...

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Source

Identifiers

PMID: 7605880
DOI: 10.1097/00001721-199504000-00009

Genes

PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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