Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
J Neurogenet
; 27(1-2): 16-8, 2013 Jun.
Article
em En
| MEDLINE
| ID: mdl-23405979
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ácido Aspártico
/
Chaperonas Moleculares
/
Predisposição Genética para Doença
/
Distúrbios Distônicos
/
Polimorfismo de Nucleotídeo Único
/
Histidina
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Argentina
Idioma:
En
Revista:
J Neurogenet
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Argentina
País de publicação:
Reino Unido