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The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion.

Clinical laboratory - 1 Mar 2024

Reißig Julian, Cunningham Sarah, Wandersee Alexandra, Brox Regine, Achenbach Susanne, Strobel Julian, Hackstein Holger, Schneider Sabine

Abstract excerpt

BACKGROUND: The recently identified PROS1 mutation Protein S Erlangen c.1904T>C, resulting in amino acid exchange F635S, is associated with severe quantitative protein S (PS) deficiency and clinical thrombosis. It was hypothesized that this deficiency is due to a secretion defect [1]. This report aims to further elucidate the potential secretion defect of PS Erlangen. METHODS: Coding sequences (CDS) of wild type...

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Identifiers

PMID: 38469768
DOI: 10.7754/Clin.Lab.2023.230906

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