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Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

Human mutation - 1 Feb 2002

El-Hakeh Jazmin, Rosenzweig Sergio, Oleastro Matias, Basack Nora, Berozdnik Liliana, Molina Felisa, Rivas Eva Maria, Zelazko Marta, Danielian Silvia

Abstract excerpt

Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections. X-linked thrombocytopenia (XLT) is a milder form with only platelet abnormalities. Cumulative mutation data have revealed that WASP genotypes are highly variable among WAS patients. By SSCP analysis, we determined the...

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PMID: 11793485
DOI: 10.1002/humu.9013

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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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