Discover Community Create You

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

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

Blood - 15 Nov 1995

Wengler G S, Notarangelo L D, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio A G, Parolini O

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by immunodeficiency, thrombocytopenia, and severe eczema. WAS is a life-threatening disease, with a poor quality of life and high mortality rate in childhood. The gene responsible for the disease has been localized to the proximal short arm of the X-chromosome and recently isolated through positional cloning and named...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Molecular Sequence Data

Share to Mutation

Share to Nucleic Acid Hybridization

Share to Point Mutation

Share to Proteins

Source

Identifiers

PMID: 7579329

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.PMID 7579329Read ↗

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

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

Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing.Semantic proximity Read ↗

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.Semantic proximity Read ↗

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease 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 ↗

A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.Semantic proximity Read ↗

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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