Article
[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2009
Xu Min, Wang You-min, Xing Xue-nong, Zhou Xiao-hui
Abstract excerpt
OBJECTIVE: To investigate the clinical features and to identify the DAX-1 gene mutation in a Chinese kindred with X-linked adrenal hypoplasia congenital(AHC). METHODS: Clinical data and peripheral blood samples were obtained from the affected individuals and their relatives. The genomic DNA was isolated from whole blood. Four pairs of primers were used to amplify the two exons of the DAX-1 gene, and PCR products...
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