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Article

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Human molecular genetics - 1 Jul 1995

Derry J M, Kerns J A, Weinberg K I, Ochs H D, Volpini V, Estivill X, Walker A P, Francke U

Abstract excerpt

The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome (WAS). We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families. These missense, nonsense and frameshift mutations involve eight of the 12 exons of the gene. Two...

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Identifiers

PMID: 8528199
DOI: 10.1093/hmg/4.7.1127

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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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WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.PMID 8528199Read ↗

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Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.Semantic proximity Read ↗

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

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.Semantic proximity Read ↗

Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia: WASP Gene Mutations, Protein Expression, and PhenotypeSemantic proximity Read ↗

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.Semantic proximity Read ↗

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopeniaSemantic proximity Read ↗

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.Semantic proximity Read ↗

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