Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population

Highlights • To assess the association of TOR1A and THAP1 within AOPFD. • A total of 248 subjects (117 patients vs. 131 healthy controls) were included. • TOR1A mutation has little, if any, contribution to AOPFD. • No association between TOR1A variants (rs2296793, rs1801968) and AOPFD was found. • T...

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Bibliographic Details
Published in:	Clinical neurology and neurosurgery Vol. 142; pp. 26 - 30
Main Authors:	Wang, Lei, Duan, Chenchi, Gao, Yuan, Xu, Wei, Ding, Jianqing, Liu, Victoria T, Wu, Yiwen
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 01-03-2016 Elsevier Limited
Subjects:	Adult Adult-onset primary dystonia Age Aged Apoptosis Regulatory Proteins - genetics Asian Continental Ancestry Group - genetics Chinese population Confidence intervals DNA-Binding Proteins - genetics Dystonic Disorders - genetics Female Gene Frequency - genetics Genes Genetic Predisposition to Disease Genotype Humans Male Middle Aged Molecular Chaperones - genetics Mutation Mutation - genetics Neurology Neurosurgery Nuclear Proteins - genetics Population Single nucleotide polymorphism Software Studies THAP1 TOR1A Chinese population TOR1A Single nucleotide polymorphism Adult-onset primary dystonia THAP1
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Summary:	Highlights • To assess the association of TOR1A and THAP1 within AOPFD. • A total of 248 subjects (117 patients vs. 131 healthy controls) were included. • TOR1A mutation has little, if any, contribution to AOPFD. • No association between TOR1A variants (rs2296793, rs1801968) and AOPFD was found. • The results of our study were confirmed by pooled analysis.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2016.01.018