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Article

[The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2015

Zhang Jing, Shi Jun, Li Xingxin, Shao Yingqi, Liu Chijia, Ge Meili, Huang Zhendong, Nie Neng, Huang Jinbo, Zheng Yizhou

Abstract excerpt

OBJECTIVE: To investigate the history of a Wiskott- Aldrich syndrome (WAS) family with normal mean platelet volume (MPV), analyse the WASP gene mutation of to better understand its clinical characteristics. METHODS: A four- generation WAS family histories of 22 members were investigated. Peripheral blood samples were collected from propositus and his mother to analyse all exon mutations of WASP gene using sanger...

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Identifiers

PMID: 26462775
DOI: 10.3760/cma.j.issn.0253-2727.2015.09.007
PMCID: PMC7342700

Genes

ADAMTS13
CBL
CREBBP
DNM2
PCNA

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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