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Article

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.

Human mutation - 1 Apr 2000

Brooimans R A, van den Berg A J, Tamminga R Y, Revesz T, Wulffraat N M, Zegers B J

Abstract excerpt

Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patients with classical WAS of Dutch descent was examined by single-strand conformation polymorphism and sequence...

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Identifiers

PMID: 10737997
DOI: 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU24>3.0.CO;2-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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