| pubmed-article:19284587 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19284587 | lifeskim:mentions | umls-concept:C0752203 | lld:lifeskim |
| pubmed-article:19284587 | lifeskim:mentions | umls-concept:C1540039 | lld:lifeskim |
| pubmed-article:19284587 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:19284587 | pubmed:dateCreated | 2009-3-27 | lld:pubmed |
| pubmed-article:19284587 | pubmed:abstractText | Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia. | lld:pubmed |
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| pubmed-article:19284587 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19284587 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19284587 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19284587 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19284587 | pubmed:issn | 1471-2350 | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:ZhaoYuY | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:TarsyDanielD | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:HederaPeterP | lld:pubmed |
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| pubmed-article:19284587 | pubmed:author | pubmed-author:TruongDaniel... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:BlitzerAndrew... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:LeDouxMark... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:BatishSat... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:UittiRyan JRJ | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:PfeifferRonal... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:RacetteBrad... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:XiaoJianfengJ | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:PanielloRanda... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:GongSuzhenS | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:BastianRobert... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:KarimiMorvari... | lld:pubmed |
| pubmed-article:19284587 | pubmed:author | pubmed-author:TabbalSamer... | lld:pubmed |
| pubmed-article:19284587 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19284587 | pubmed:volume | 10 | lld:pubmed |
| pubmed-article:19284587 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19284587 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19284587 | pubmed:pagination | 24 | lld:pubmed |
