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Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease

✍ Scribed by Shigeaki Nonoyama; Hans D Ochs

Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 784 KB
Volume: 10
Category: Article
ISSN: 0952-7915
DOI: 10.1016/s0952-7915(98)80113-1

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✦ Synopsis

Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a GTPase-binding domain, a proline-rich region and a verprolin/cofilin homology domain. Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton.

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