Article
Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
Journal of neurogenetics - 1 Jun 2013
Caputo Mariela, Irisarri Maximiliano, Perandones Claudia, Alechine Evguenia, Pellene Luis Alejandro, Roca Claudia Uribe, Micheli Federico E, Corach Daniel
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Age of Onset
- Argentina
- Aspartic Acid
- Child
- Dystonic Disorders
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Histidine