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Article

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

17 Jul 2011

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Share to Antiplatelet Therapy and Cardiovascular Diseases
Share to Blood Coagulation and Thrombosis Mechanisms
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Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21765411
DOI: 10.1038/ng.885

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Related research

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Research trail→

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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromePMID 21765411Read ↗

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.Semantic proximity Read ↗

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

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

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.Semantic proximity Read ↗

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

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

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