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Article

A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2022

Adam Frédéric, Kauskot Alexandre, Lamrani Lamia, Solarz Jean, Soukaseum Christelle, Repérant Christelle, Denis Cécile V, Raslova Hana, Rosa Jean-Philippe, Bryckaert Marijke

Abstract excerpt

BACKGROUND: Filaminopathies A are rare disorders affecting the brain, intestine, or skeleton, characterized by dominant X-linked filamin A (FLNA) gene mutations. Macrothrombocytopenia with functionally defective platelets is frequent. We have described a filaminopathy A male patient, exhibiting a C-terminal frame-shift FLNa mutation (Berrou et al., Arterioscler Thromb Vasc Biol. 2017;37:1087-1097). Contrasting...

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Identifiers

PMID: 36006037
DOI: 10.1111/jth.15864
PMCID: PMC9826440

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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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