Article
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
Zhonghua yi xue za zhi - 3 Feb 2009
Li Mei-rong, Pan Hong, Bao Xin-hua, Zhu Xing-wang, Cao Guang-na, Zhang Yu-zhi, Wu Xi-ru
Abstract excerpt
OBJECTIVE: To study the spectrum of mutations in methyl-CpG-binding protein 2 gene (MECP2) and cyclin-dependent kinase-like 5 gene (CDKL5) in Chinese pediatric patients with Rett syndrome (RTT), and establish a simple, quick, and efficient gene test method as well as screen a strategy of genetic diagnosis for RTT. METHODS: Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes of...
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