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Article

A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.

Annals of hematology - 1 Apr 2016

Yokoi Setsuri, Kunishima Shinji, Takahashi Yoshiyuki, Morishita Masashi, Kojima Seiji

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Source

Identifiers

PMID: 26861218
DOI: 10.1007/s00277-016-2613-2

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.PMID 26861218Read ↗

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

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[MYH9-related macrothrombocytopenia].Semantic proximity Read ↗

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Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia.Semantic proximity Read ↗

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

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

MYH9-Related Platelet DisordersSemantic proximity Read ↗

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

MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisSemantic proximity Read ↗

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

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

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