[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome] Research Abstract Details 

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[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome] Abstract Text:

Yuhu Zhang,Beisha Tang,Jifeng Guo,Zhigao Long,Kun Xia,Qian Pan,Zhengmao Hu,Dingwen Wu,Jianguang Tang,Tao Chen,Xinxiang Yan,

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, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported. CONCLUSION: PANK2 gene mutations can cause HSS in Chinese patients.

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome] Publishing Authors By Initials

Y Zhang,B Tang,J Guo,Z Long,K Xia,Q Pan,Z Hu,D Wu,J Tang,T Chen,X Yan,

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[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome] Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yix

VOLUME: 22

Page Numbers: 189-91

Journal Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Z

ISSN: 1003-9406

DAY: 28

MONTH: Apr

YEAR: 2005

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome] Information

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LANGUAGE: chi

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AFFILIATION: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn.

Country: China

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MEDLINETA: Zhonghua Yi Xue Yi Chuan Xue Z

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