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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2003-9-16
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pubmed:abstractText |
Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. A 3-base pair (GAG) deletion in the DYT1 gene is held responsible for most cases of early-onset primary generalized dystonia in the Ashkenazi Jewish population as well as in non-Jewish patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:BauerIngridI,
pubmed-author:BauerPeterP,
pubmed-author:DresslerDirkD,
pubmed-author:GrundmannKathrinK,
pubmed-author:Laubis-HerrmannUlrikeU,
pubmed-author:RiessOlafO,
pubmed-author:SchölsLudgerL,
pubmed-author:SchulteThorstenT,
pubmed-author:StuhrmannManfredM,
pubmed-author:TopkaHelgeH,
pubmed-author:Vollmer-HaaseJulianeJ
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pubmed:issnType |
Print
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1266-70
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12975293-Base Pairing,
pubmed-meshheading:12975293-Carrier Proteins,
pubmed-meshheading:12975293-DNA Mutational Analysis,
pubmed-meshheading:12975293-DNA Primers,
pubmed-meshheading:12975293-Dystonia,
pubmed-meshheading:12975293-Female,
pubmed-meshheading:12975293-Gene Deletion,
pubmed-meshheading:12975293-Genetic Variation,
pubmed-meshheading:12975293-Humans,
pubmed-meshheading:12975293-Incidence,
pubmed-meshheading:12975293-Male,
pubmed-meshheading:12975293-Middle Aged,
pubmed-meshheading:12975293-Molecular Chaperones,
pubmed-meshheading:12975293-Phenotype,
pubmed-meshheading:12975293-Point Mutation,
pubmed-meshheading:12975293-Posture,
pubmed-meshheading:12975293-Prevalence
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pubmed:year |
2003
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pubmed:articleTitle |
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
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pubmed:affiliation |
Department of Neurology, University of Tübingen, Germany.
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pubmed:publicationType |
Journal Article
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