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Article

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.

Platelets - 1 Sept 2018

Pluthero Fred G, Di Paola Jorge, Carcao Manuel D, Kahr Walter H A

Abstract excerpt

Homozygosity/compound heterozygosity for loss of function mutations in neurobeachin-like 2 (NBEAL2) is causative for Gray platelet syndrome (GPS; MIM #139090), characterized by thrombocytopenia and large platelets lacking α-granules and cargo. Most GPS-associated NBEAL2 mutations generate nonsense codons; frameshifts causing premature translation termination and/or changes in mRNA splicing have also been...

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Source

Identifiers

PMID: 29869935
DOI: 10.1080/09537104.2018.1478405

Genes

NBEAL2
LRBA
LYST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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