Article
DYT1 mutations amongst early onset primary dystonia patients in China.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih - 1 Mar 2008
Yang Jing-fang, Li Jian-yu, Li Yong-jie, Wu Tao, Zhang Yan-li, Chen Biao
Abstract excerpt
OBJECTIVE: To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China. METHODS: Thirteen patients with early onset primary torsion dystonia were screened for mutation in exon 5 of the DYT1 gene using denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing, and the results were confirmed with polymerase chain reaction-restriction fragment...
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