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Article

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Journal of immunology (Baltimore, Md. : 1950) - 15 Jul 2005

Lutskiy Maxim I, Rosen Fred S, Remold-O'Donnell Eileen

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) is a platelet/immunodeficiency disease arising from mutations of WAS protein (WASP), a hemopoietic cytoskeletal protein. Clinical symptoms vary widely from mild (X-linked thrombocytopenia) to life threatening. In this study, we examined the molecular effects of individual mutations by quantifying WASP in peripheral lymphocytes of 44 patients and identifying the molecular variant...

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Source

Identifiers

PMID: 16002738
DOI: 10.4049/jimmunol.175.2.1329

Genes

VASP

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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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