Article
[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010
Zhang Jing-jing, Bao Xin-hua, Cao Guang-na, Jiang Sheng-ling, Zhu Xing-wang, Lu Hong-mei, Jia Li-fang, Pan Hong, Wu Xi-ru
Abstract excerpt
OBJECTIVE: To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome. METHODS: Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which...
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