Article
[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2005
Zhang Yuhu, Tang Beisha, Guo Jifeng, Long Zhigao, Xia Kun, Pan Qian, Hu Zhengmao, Wu Dingwen, Tang Jianguang, Chen Tao, Yan Xinxiang
Abstract excerpt
OBJECTIVE: To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS). METHODS: PANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons. RESULTS: Novel compound heterozygous PANK2 gene mutations,...
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