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

IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.

Pediatric blood & cancer - 1 Feb 2012

Yoon Seong-Ho, Cho Taeshik, Kim Hee-Jin, Kim Sun-Young, Ko Jeong-Hee, Baek Hey-Sung, Lee Hyun-Ju, Lee Chul-Hoon

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by a mutation in the WAS gene on Xp11.22. We report two patients with IVS6+5G>A of WAS in a Korean family. The proband presented with classic WAS, whereas his maternal cousin had symptoms limited to XLT. Their mothers were proved to be carriers. The IVS6+5G>A mutation was reported to result in incomplete splicing of the donor site and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Exons

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

Share to Genetic Association Studies

Share to Prognosis

Share to Thrombocytopenia

Share to Wiskott-Aldrich Syndrome

Share to Wiskott-Aldrich Syndrome Protein

Source

Identifiers

PMID: 22038941
DOI: 10.1002/pbc.23377

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

IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.PMID 22038941Read ↗

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

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

A novel splice site mutation in the WAS gene causes Wiskott–Aldrich syndrome in two siblings of a Saudi familySemantic 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 ↗

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.Semantic proximity Read ↗

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.Semantic proximity Read ↗

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.Semantic proximity Read ↗

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

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

Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.Semantic proximity Read ↗

Clinical course of patients with WASP gene mutations.Semantic proximity Read ↗

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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