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Article

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

Journal of human genetics - 1 Jan 2003

Andreu Nuria, Carreras Carmen, Prieto Félix, Estivill Xavier, Volpini Victor, Fillat Cristina

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia with small platelets. A wide spectrum of mutations in the Wiskott-Aldrich syndrome protein ( WASP) gene have been identified as causative of the disease. In the present paper, we report on a family with a boy affected by WAS, with a splice-site mutation caused by a T to G substitution...

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Source

Identifiers

PMID: 14566484
DOI: 10.1007/s10038-003-0083-6

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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.

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Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.PMID 14566484Read ↗

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