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Article

Identification of the first in cis mutations in MYH9 disorder.

European journal of haematology - 1 Apr 2009

Miyajima Yuji, Kunishima Shinji

Abstract excerpt

Here, we report the first in cis mutations in exon 1 of the MYH9 gene in a patient with MYH9 disorder. The patient was a 5-yr-old girl with macrothrombocytopenia and conspicuous cytoplasmic inclusion bodies in neutrophils. Immunofluorescence analysis of neutrophil non-muscle myosin heavy chain-II A (NMMHC-IIA) indicated several cytoplasmic spots of NMMHC-IIA aggregates that were circular to oval in shape (type II...

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Source

Identifiers

PMID: 19191864
DOI: 10.1111/j.1600-0609.2008.01202.x

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the first in cis mutations in MYH9 disorder.PMID 19191864Read ↗

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

Advances in the understanding of MYH9 disorders.Semantic proximity Read ↗

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.Semantic proximity Read ↗

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.Semantic proximity Read ↗

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.Semantic proximity Read ↗

Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.Semantic proximity Read ↗

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.Semantic proximity Read ↗

Mutation spectrum and genotype‐phenotype correlations in a large French cohort of <scp>MYH</scp>9‐Related DisordersSemantic proximity Read ↗

A case of MYH9 disorders caused by a novel mutation (p.K74E).Semantic proximity Read ↗

A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree.Semantic proximity Read ↗

[Gene analysis and clinical features of MYH9-related disease].Semantic proximity Read ↗

[Nonmuscle myosin heavy chain 9 gene mutations related disease: a family report].Semantic proximity Read ↗

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