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Article

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.

American journal of hematology - 1 Feb 2017

Bottega Roberta, Nicchia Elena, Alfano Caterina, Glembotsky Ana C, Pastore Annalisa, Bertaggia-Calderara Debora, Bisig Bettina, Duchosal Michel A, Arbesú Guillermo, Alberio Lorenzo, Heller Paula G, Savoia Anna

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27870194
DOI: 10.1002/ajh.24610

Genes

NBEAL2

Provenance

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

Related research

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Gray platelet syndrome: Novel mutations of the NBEAL2 gene.PMID 27870194Read ↗

Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.Semantic proximity Read ↗

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeSemantic proximity Read ↗

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndromeSemantic proximity Read ↗

NBEAL2 gene mutations do not always lead to gray platelet syndrome: A case report.Semantic proximity Read ↗

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.Semantic proximity Read ↗

GFI1B mutation causes autosomal dominant gray platelet syndrome.Semantic proximity Read ↗

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Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeSemantic proximity Read ↗

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The gray platelet syndrome: Clinical spectrum of the diseaseSemantic proximity Read ↗

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Semantic proximity Read ↗

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