Article
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jun 2010
Wu-Chou Yah-Huei, Yeh Tu-Hsueh, Wang Chuan-Yu, Lin Juei-Jueng, Huang Chin-Chang, Chang Hsiu-Chen, Lai Szu-Chia, Chen Rou-Shayn, Weng Yi-Hsin, Huang Chia-Ling, Lu Chin-Song
Abstract excerpt
Large deletions in the GCH1 gene have been reported in a minority of cases of dopa-responsive dystonia (DRD). In this study, we performed an extensive clinical and genetic investigation of 22 affected members in eight families. Sequence analysis revealed five different mutations in five families (n = 10); Ser81Pro (novel), Ser76X, Gly203Arg, 249del A, and IVS5 + 3insT. Applying multiple ligation-dependent probe...
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