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Article

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

Human genetics - 1 Dec 1996

Greer W L, Shehabeldin A, Schulman J, Junker A, Siminovitch K A

Abstract excerpt

The Wiskott-Aldrich syndrome (WAS), an X-linked immunodeficiency disease caused by mutation in the recently isolated gene encoding WAS protein (WASP), is known to be associated with extensive clinical heterogeneity. Cumulative mutation data have revealed that WASP genotypes are also highly variab...

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PMID: 8931701
DOI: 10.1007/s004390050285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8931701-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.PMID 8931701Read ↗

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Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.Semantic proximity Read ↗

WASP and the phenotypic range associated with deficiency.Semantic proximity Read ↗

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.Semantic proximity Read ↗

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.Semantic proximity Read ↗

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Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.Semantic proximity Read ↗

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