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Article

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

Human genetics - 1 Aug 1992

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

Abstract excerpt

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.

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Source

Identifiers

PMID: 1511989
DOI: 10.1007/BF00221964

Genes

PROC

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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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.PMID 1511989Read ↗

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A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.Semantic proximity Read ↗

A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.Semantic proximity Read ↗

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Gly197Arg mutation in protein C causes recurrent thrombosis in a heterozygous carrier.Semantic proximity Read ↗

A novel silent substitution (C8516T) in exon 9 of the human PROC gene.Semantic proximity Read ↗

Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis.Semantic proximity Read ↗

Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C.Semantic proximity Read ↗

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