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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
Zech, Michael; Jochim, Angela; Boesch, Sylvia; Weber, Sandrina; Meindl, Tobias; Peters, Annette; Gieger, Christian; Mueller, Joerg; Messner, Michael; Ceballos-Baumann, Andres; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane
Abstract:
An increasing number of rare, functionally relevant non-c.907_909delGAG (non-?GAG) variants in TOR1A have been recognized, associated with phenotypic expressions different from classic DYT1 childhood-onset generalized dystonia. Only recently, DYT1 genotype-phenotype correlations have been proposed, awaiting further elucidation in independent cohorts.We screened the entire coding sequence and the 5'-UTR region of TOR1A for rare non-?GAG sequence variants in a large series of 940 individuals with...     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2016
Band / Volume:
31
Seitenangaben Beitrag:
119-123
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.parkreldis.2016.07.013
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27477622
Print-ISSN:
1353-8020
TUM Einrichtung:
Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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