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Cell. 1994 Aug 26;78(4):635-44.

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

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  • 1Howard Hughes Medical Institute, Beckman Center for Molecular and Genetic Medicine, Stanford, California.

Abstract

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, and recurrent infections. Linkage studies have placed the gene at Xp11.22-p11.23. We have isolated from this interval a novel gene, WASP, which is expressed in lymphocytes, spleen, and thymus. The gene is not expressed in two unrelated WAS patients, one of whom has a single base deletion that produces a frame shift and premature termination of translation. Two additional patients have been identified with point mutations that change the same arginine residue to either a histidine or a leucine. WASP encodes a 501 amino acid proline-rich protein that is likely to be a key regulator of lymphocyte and platelet function.

PMID:
8069912
[PubMed - indexed for MEDLINE]
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