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Article

Molecular genetic analysis of severe protein C deficiency.

Human genetics - 1 Jun 2000

Millar D S, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper D N

Abstract excerpt

Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes of nine unrelated individuals with severe protein C deficiency were sequenced yielding a total of 13 different lesions. Eight of these were novel, including a gross gene deletion, three missense mutations, two micro-deletions, a splicing mutation and a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10942114
DOI: 10.1007/s004390000315

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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