| DYT1 mutations amongst early onset primary dystonia patients in China. | |
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MedLine Citation:
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PMID: 18437909 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 length polymorphism (PCR-RFLP). RESULTS: The GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients. The detecting results were consistent between with DHPLC and PCR-RFLP. We did not find any other mutations in the DYTI gene. CONCLUSIONS: The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in China. The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia. |
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Authors:
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Jing-fang Yang; Jian-yu Li; Yong-jie Li; Tao Wu; Yan-li Zhang; Biao Chen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Chinese medical sciences journal = Chung-kuo i hsüeh k'o hsüeh tsa chih / Chinese Academy of Medical Sciences Volume: 23 ISSN: 1001-9294 ISO Abbreviation: Chin. Med. Sci. J. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-04-28 Completed Date: 2009-04-27 Revised Date: 2009-06-03 |
Medline Journal Info:
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Nlm Unique ID: 9112559 Medline TA: Chin Med Sci J Country: China |
Other Details:
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Languages: eng Pagination: 38-43 Citation Subset: IM |
Affiliation:
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Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Base Sequence Child China Chromatography, High Pressure Liquid DNA Primers Dystonia / genetics* Female Humans Infant Male Molecular Chaperones / genetics* Mutation* |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Molecular Chaperones; 0/TOR1A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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