Article
[Functional analysis of novel mutations in PAX9 associated with familial oligodontia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2005
Zhao Ji-lin, Chen Yang-xi, Bao Lang, Wu Tuo-jiang, Zhou Li
Abstract excerpt
OBJECTIVE: To gain new insights into the molecular pathogenesis of the 109(InsG) and 139(C--> T) mutations and their roles in familial oligodontia. METHODS: The region of PAX9 paired domain (PAX9PD) was amplified and the expression plasmids were constructed in pGEXlambda -1T by PCR-based cloning. PAX9PD proteins were prepared on the basis of GST instruction. The binding of wild type and two novely mutant PAX9...
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