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Article

Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk.

Scientific reports - 4 Apr 2017

Suchon P, Germain M, Delluc A, Smadja D, Jouven X, Gyorgy B, Saut N, Ibrahim M, Deleuze J F, Alessi M C, Morange P E, Trégouët D A

Abstract excerpt

Hereditary Protein S (PS) deficiency is a rare coagulation disorder associated with an increased risk of venous thrombosis (VT). The PS Heerlen (PSH) mutation is a rare S501P mutation that was initially considered to be a neutral polymorphism. However, it has been later shown that PSH has a reduced half-life in vivo which may explain the association of PSH heterozygosity with mildly reduced levels of plasma free...

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Identifiers

PMID: 28374852
DOI: 10.1038/srep45507
PMCID: PMC5379621

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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