title: Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
abstract: 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.
authors: Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, University of Buenos Aires, CABA, Argentina.
authors: Mariela
authors: M
authors: Caputo
authors: Maximiliano
authors: M
authors: Irisarri
authors: Claudia
authors: C
authors: Perandones
authors: Evguenia
authors: E
authors: Alechine
authors: Luis Alejandro
authors: LA
authors: Pellene
authors: Claudia Uribe
authors: CU
authors: Roca
authors: Federico E
authors: FE
authors: Micheli
authors: Daniel
authors: D
authors: Corach
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001118:Argentina; D001224:Aspartic Acid / Q000235:genetics*; D002648:Child; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human; D001224:Aspartic Acid; D006639:Histidine