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Article

Description of a novel mutation leading to MYH9-related disease.

Thrombosis research - 1 Jan 2008

Burt Rachel A, Joseph Joanne E, Milliken Sam, Collinge Janelle E, Kile Benjamin T

Abstract excerpt

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Topics

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Share to Amino Acid Sequence
Share to MYH9 gene
Share to Molecular Motor Proteins
Share to Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myosin Heavy Chains

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 18676005
DOI: 10.1016/j.thromres.2008.06.011

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Description of a novel mutation leading to MYH9-related disease.PMID 18676005Read ↗

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

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

Identification of a novel MYH9-related disease-associated mutation with multiple faintly staining Döhle-like bodies.Semantic proximity Read ↗

A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation.Semantic proximity Read ↗

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

Early diagnosis improves the quality of life in MYH9 disorder.Semantic proximity Read ↗

Identification of the first in cis mutations in MYH9 disorder.Semantic proximity Read ↗

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.Semantic proximity Read ↗

Novel variant of MYH9 associated with mild evaluation of MYH9 related disorder in a Chinese family.Semantic proximity Read ↗

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.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 ↗

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