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Article

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.

Yonsei medical journal - 1 May 2012

Jang Moon Ju, Park Hyun-Jeong, Chong So Young, Huh Ji Young, Kim In-Ho, Jang Ja-Hyun, Kim Hee-Jin, Oh Doyeun

Abstract excerpt

In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm³; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15,000/mm³ with giant platelets. Coagulation test...

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Source

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Identifiers

PMID: 22477015
DOI: 10.3349/ymj.2012.53.3.662
PMCID: PMC3343441

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.PMID 22477015Read ↗

Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.Semantic proximity Read ↗

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.Semantic proximity Read ↗

[A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism].Semantic proximity Read ↗

R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.Semantic proximity Read ↗

[Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly].Semantic proximity Read ↗

A novel MYH9 variant in a Chinese patient with MYH9 related diseaseSemantic proximity Read ↗

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

[Molecular diagnosis of a family with May-Hegglin anomaly].Semantic proximity Read ↗

[Identification of MYH9 gene mutation in a May-Hegglin anomaly family].Semantic proximity Read ↗

[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].Semantic proximity Read ↗

Description of a novel mutation leading to MYH9-related disease.Semantic proximity Read ↗

MYH9 gene mutations associated with bleeding.Semantic proximity Read ↗

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