| http://purl.uniprot.org/citations/20925076 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20925076 | http://www.w3.org/2000/01/rdf-schema#comment | "The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.org/dc/terms/identifier | "doi:10.1002/mds.23133"xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Fuchs T."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Borges V."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Lamar K.M."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "De Carvalho Aguiar P."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Ozelius L."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Silva S.M."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/author | "Ferraz H.B."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/name | "Mov Disord"xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/pages | "2854-2857"xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/title | "Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion."xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://purl.uniprot.org/core/volume | "25"xsd:string |
| http://purl.uniprot.org/citations/20925076 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20925076 |
| http://purl.uniprot.org/citations/20925076 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20925076 |
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