Article
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2004
Liu Wei, Tang Bei-sha, Cao Gui-fang, Chen Tao, Li Hai-yan
Abstract excerpt
OBJECTIVE: To explore the mutation of tyrosine hydroxylase(TH) gene in Chinese patients with autosomal recessive(AR) dopa-responsive dystonia(DRD) and to lay a solid basis for gene diagnosis of AR-DRD in China. METHODS: Mutation analysis of TH gene was performed in 5 probands with AR-DRD and 2 sporadic patients with DRD by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)...
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