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Article

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

Nature genetics - 1 Sept 2000

Kelley M J, Jawien W, Ortel T L, Korczak J F

Abstract excerpt

May-Hegglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characterized by thrombocytopenia, giant platelets and leukocyte inclusions. Studies have indicated that platelet structure and function are normal, suggesting a defect in megakaryocyte fragmentation. The disorder has been linked to chromosome 22q12-13. Here we screen a candidate gene in this region, encoding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10973260
DOI: 10.1038/79069

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.PMID 10973260Read ↗

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[Clinical and molecular-biological study of a May-Hegglin anomaly family].Semantic proximity Read ↗

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