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Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.

Human mutation - 1 Aug 2002

Chan Koon-Wing, Lee Tsz-Leung, Chung Brian Hon-Yin, Yang Xiqiang, Lau Yu-Lung

Abstract excerpt

The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies i...

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Identifiers

PMID: 12124997
DOI: 10.1002/humu.9048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12124997-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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