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Article

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Pathology - 1 Jun 2004

Bourne Helen C, Weston Susan, Prasad Madhuri, Edkins Edward, Benson Elisabeth M

Abstract excerpt

UNLABELLED: Mutations of the gene encoding the Wiskott-Aldrich syndrome protein (WASP) have been previously shown to be responsible for classical Wiskott-Aldrich syndrome (WAS), isolated X-linked thrombocytopenia (XLT) and severe congenital X-linked neutropenia. AIMS: Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT. METHODS: Mutation analysis was...

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Identifiers

PMID: 15203732
DOI: 10.1080/00313020410001692521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.PMID 15203732Read ↗

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Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.Semantic proximity Read ↗

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