Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls

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Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls

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作者：Michael Zech^a ; ^b ; Angela Jochim^a ; Sylvia Boesch^c ; Sandrina Weber^b ; Tobias Meindl^a ; Annette Peters^d ; Christian Gieger^e ; Joerg Mueller^c ; ^f ; Michael Messner^g ; Andres Ceballos-Baumann^g ; Werner Poewe^c ; Bernhard Haslinger^a ; Juliane Winkelmann^a ; ^b ; ^h ; ^{winkelmann@lrz.tu-muenchen.de" class="auth_mail" title="E-mail the corresponding author}
关键词：Dystonia ; Gene ; DYT1 ; TOR1A ; Rare variant analysis
刊名：Parkinsonism & Related Disorders
出版年：2016
出版时间：October 2016
年：2016
卷：31
期：Complete
页码：119-123
全文大小：505 K

文摘

•: Preliminary genotype-phenotype correlations have been proposed for DYT1.
•: We identified 5 non-ΔGAG TOR1A variants in 940 dystonia cases.
•: One non-ΔGAG TOR1A variant was present in 376 controls.
•: The carrier rate of predicted damaging non-ΔGAG TOR1A variants at ExAC is 0.4%.
•: The role of non-ΔGAG TOR1A variants in dystonia remains to be further elucidated.

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