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Article

MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.

Acta haematologica - 1 Jan 2014

Zhang Shufang, Zhou Xueya, Liu Shengnan, Bai Tingting, Zhang Yingai, Wang Jing, Wang Shunlan, Zhang Xuegong, Wang Binbin

Abstract excerpt

We describe a large four-generational Chinese pedigree segregating MYH9 -related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA...

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Source

Identifiers

PMID: 24643058
DOI: 10.1159/000356681

Genes

MYH9

Variants

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.

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