Article
[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2006
Jiang Sheng-ling, Bao Xin-hua, Song Fu-ying, Pan Hong, Li Mei-rong, Wu Xi-ru
Abstract excerpt
OBJECTIVE: Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder mainly affecting females. The pathogenic gene is located at Xq28, which codes for the methyl-CpG-binding protein 2. MECP2 gene is affected by X chromosome inactivation (XCI). The different XCI patterns of females could affect the expression ratios of pathogenic gene, causing changes in clinical symptoms. In order to understand the...
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