Heterogeneity of platelet functional alterations in patients with filamin A mutations.

doi:10.1161/ATVBAHA.112.300603

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Article

Heterogeneity of platelet functional alterations in patients with filamin A mutations.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jan 2013

Berrou Eliane, Adam Frédéric, Lebret Marilyne, Fergelot Patricia, Kauskot Alexandre, Coupry Isabelle, Jandrot-Perrus Martine, Nurden Alan, Favier Rémi, Rosa Jean-Philippe, Goizet Cyril, Nurden Paquita, Bryckaert Marijke

Abstract excerpt

OBJECTIVE: We examined platelet functions in 4 unrelated patients with filaminopathy A caused by dominant mutations of the X-linked filamin A (FLNA) gene. METHODS AND RESULTS: Patients P1, P2, and P4 exhibited periventricular nodular heterotopia, heterozygozity for truncating FLNA mutations, and thrombocytopenia (except P2). P3 exhibited isolated thrombocytopenia and heterozygozity for a p.Glu1803Lys FLNA...

Topics

Blood Platelets
Blotting, Western
Cell Shape
Collagen
Contractile Proteins
Crotalid Venoms
Cytoskeleton
Dose-Response Relationship, Drug
Female
Fibrinogen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Filamins

Genetic Predisposition to Disease

Heterozygote

Humans

Lectins, C-Type

Microfilament Proteins

Muscular Dystrophies

Mutation

Source

Open in PubMed

Identifiers

PMID: 23117662
DOI: 10.1161/ATVBAHA.112.300603

Genes

FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-23117662-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Heterogeneity of platelet functional alterations in patients with filamin A mutations.PMID 23117662Read ↗

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