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

[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Shi Weili, Hou Qiaofang, Zhang Hui, Lou Guiyu, Zhang Yuwei, Liao Shixiu

Abstract excerpt

OBJECTIVE: To detect potential mutation of the WAS gene in a Chinese family affected with Wiskott-Aldrich syndrome. METHODS: Peripheral blood samples were collected from the proband and his family members. All exons and flanking regions of the WAS gene were subjected to PCR amplification - Sanger sequencing as well as restriction endonuclease analysis. Plasma level of B-cell activating factor (BAFF) was also...

Read the complete abstract on PubMed

Topics

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

Share to B-Cell Activating Factor
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Wiskott-Aldrich Syndrome

Share to Wiskott-Aldrich Syndrome Protein

Source

Identifiers

PMID: 29652993
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.013

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of WAS gene mutation in a Chinese family affected with Wiskott-Aldrich syndrome].PMID 29652993Read ↗

Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.Semantic proximity Read ↗

[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].Semantic proximity Read ↗

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

[The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].Semantic proximity Read ↗

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

[Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].Semantic proximity Read ↗

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.Semantic proximity Read ↗

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.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 ↗

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

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