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Article

A novel protocol to identify mutations in patients with wiskott-Aldrich syndrome.

Blood cells, molecules & diseases - 1 Jan 2000

Jones L N, Lutskiy M I, Cooley J, Kenney D M, Rosen F S, Remold-O'Donnell E

Abstract excerpt

Mutations of WASP (Wiskott-Aldrich syndrome protein) underlie the severe immunodeficiency/platelet disorder Wiskott-Aldrich syndrome (WAS) and its milder variant X-linked thrombocytopenia (XLT). The affected gene, a 12-exon structure on the X-chromosome, is expressed exclusively in blood cells. The encoded product WASP is a 502-amino-acid scaffolding protein that functions in stimulus-induced nucleation of actin...

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Identifiers

PMID: 12367583
DOI: 10.1006/bcmd.2002.0523

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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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