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Article

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

Journal of Korean medical science - 1 Dec 2007

Park Sook Kyung, Kim Chun Soo, Song Dae Kyu, Kim Joo Young, Choi In Jang, Kim Dae Kwang

Abstract excerpt

The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene. Peripheral blood DNAs were isolated from an 18-month-old boy with WAS and his mother, maternal uncle, and maternal grandmother. Genetic analysis for the detection of a mutation of WAS gene was...

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Source

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Identifiers

PMID: 18162713
DOI: 10.3346/jkms.2007.22.6.998
PMCID: PMC2694638

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

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A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.PMID 18162713Read ↗

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Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.Semantic proximity Read ↗

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