Article
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017
Yan Yaping, Chen Xiaohong, Luo Wei
Abstract excerpt
OBJECTIVE: To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia. METHODS: PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree. RESULTS: The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60...
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