Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population

Chen, Yongping; Chen, Ke; Burgunder, Jean-Marc; Song, Wei; Huang, Rui; Zhao, Bi; Cao, Bei; Chen, Xueping; Jiang, Yi; Shang, Hui-Fang (2012). Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population. Journal of the neurological sciences, 323(1-2), pp. 228-31. Amsterdam: Elsevier 10.1016/j.jns.2012.09.025

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The deletion mutation of glutamate codon (GAG) in the TOR1A gene is a major cause of primary generalized dystonia. Recent genetic studies suggest that the rs1182 polymorphism in the same gene may represent a risk factor for primary dystonia. However, this finding has been inconsistent. Furthermore, no data on such an association in a Chinese population have been published.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Burgunder, Jean-Marc

ISSN:

0022-510X

Publisher:

Elsevier

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:39

Last Modified:

17 Mar 2015 21:33

Publisher DOI:

10.1016/j.jns.2012.09.025

PubMed ID:

23058565

Web of Science ID:

000311132700039

URI:

https://boris.unibe.ch/id/eprint/15969 (FactScience: 223492)

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