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- Title
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.
- Authors
Lee, Wen-I; Huang, Jing-Long; Jaing, Tang-Her; Wu, Kang-Hsi; Chien, Yin-Hsiu; Chang, Kuei-Wen
- Abstract
Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and recurrent infections. However, the more than 500 patient mutations described are mainly based on Caucasian and Japanese populations. This study investigated Taiwanese patients with WASP mutations since 1985 as part of a long-term comprehensive study in primary immunodeficiency diseases (PIDs) covering 23 million inhabitants.
- Publication
Journal of clinical immunology, 2010, Vol 30, Issue 4, p593
- ISSN
1573-2592
- Publication type
Journal Article
- DOI
10.1007/s10875-010-9381-x