Article
MECP2 gene mutation analysis in Chinese patients with Rett syndrome.
European journal of human genetics : EJHG - 1 Aug 2002
Pan Hong, Wang Yan-Ping, Bao Xing-Hua, Meng Hong-Di, Zhang Yan, Wu Xi-Ru, Shen Yan
Abstract excerpt
Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects almost exclusively girls. Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause. In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT. Mutations in MECP2 were found...
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