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Title: Analysis of D216H polymorphism in Argentinean patients with primary dystonia
Authors: Caputo, Mariela 
Irisarri, Maximiliano 
Perandones, Claudia 
Alechine, Evguenia 
Pellene, Luis Alejandro 
Roca, Claudia Uribe 
Micheli, Federico E 
Corach, Daniel 
Keywords: Adolescente;Argentina;Genética
Issue Date: Jun-2013
Journal: Journal of neurogenetics 
The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. The authors could observe a significantly higher frequency of the H216 variant in dystonic patients lacking ∆GAG as compared with controls.
DOI: 10.3109/01677063.2012.761697
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