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Article

Identification of novel PROS1 variants through systematic analysis of patients with suspected hereditary protein S deficiency.

Research and practice in thrombosis and haemostasis - 1 Mar 2026

Bartylla Malte M, Achenbach Susanne, Hackstein Holger, Schneider Sabine

Abstract excerpt

Background: Protein S (PS) is an important, nonenzymatic cofactor with clinical relevance in coagulation disorders. Hereditary deficiency of PS is caused by pathogenic variants in the PROS1 gene, which encodes this protein. Identifying the presence and assessing the pathogenicity of PROS1 variants is essential for the effective management of patients with hereditary PS deficiency. Objectives: The aim of this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42079676
DOI: 10.1016/j.rpth.2026.103432
PMCID: PMC13129427

Genes

PROS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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