Article
[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2010
Shi Rui-Ming, Liu Zhi-Gang, Yang Yong-Hua
Abstract excerpt
OBJECTIVE: This study investigated the history and gene mutations of a family with X-linked thrombocytopenia, in order to understand the clinical characteristic and molecular pathogenesis of the disease. METHODS: A three-generation X-linked thrombocytopenia family with 13 family members was investigated using PCR-DNA direct sequencing method to screen the exons of WASP gene for mutation analysis. RESULTS: The...
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