Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 unr...

Topics

Join the communities discussing this publication.

Adolescent
Base Sequence
Child
DNA Primers
Exons
Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Source

Identifiers

PMID: 8528199
DOI: 10.1093/hmg/4.7.1127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8528199-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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 ↗

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.