title: Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruiz
authors.forename: Javier
authors.initials: J
authors.lastname: Ruiz-Martinez
authors.forename: Marta
authors.initials: M
authors.lastname: Ruibal
authors.forename: Kin Y
authors.initials: KY
authors.lastname: Mok
authors.forename: Begona
authors.initials: B
authors.lastname: Indakoetxea
authors.forename: Ana
authors.initials: A
authors.lastname: Gorostidi
authors.forename: José F
authors.initials: JF
authors.lastname: Martí Massó
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human; D001120:Arginine