| pubmed-article:19581089 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0152035 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0144555 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C1337106 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0087012 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C0796357 | lld:lifeskim |
| pubmed-article:19581089 | lifeskim:mentions | umls-concept:C1551910 | lld:lifeskim |
| pubmed-article:19581089 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:19581089 | pubmed:dateCreated | 2009-8-26 | lld:pubmed |
| pubmed-article:19581089 | pubmed:abstractText | Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene. This study aimed to assess the frequency of SCA17 in patients from mainland China. Analysis of CAG/CAA expansion in this gene was performed in 263 patients consisting of 100 probands with dominantly inherited ataxias and 163 patients with sporadic ataxias. Abnormal expansion of CAG/CAA repeats in the SCA17 locus was found in a proband and her younger sister. To our knowledge, we are providing the first kindred analysis of SCA17 in mainland China. | lld:pubmed |
| pubmed-article:19581089 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19581089 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19581089 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19581089 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19581089 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19581089 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19581089 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:19581089 | pubmed:issn | 0967-5868 | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:WangJ LJL | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:ShenLL | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:LeeL BLB | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:ZhangSS | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:PanQQ | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:JiangHH | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:NamS CSC | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:LiX HXH | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:XiaKK | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:SinnEE | lld:pubmed |
| pubmed-article:19581089 | pubmed:author | pubmed-author:LongZ GZG | lld:pubmed |
| pubmed-article:19581089 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:19581089 | pubmed:volume | 16 | lld:pubmed |
| pubmed-article:19581089 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19581089 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19581089 | pubmed:pagination | 1374-5 | lld:pubmed |
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| pubmed-article:19581089 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19581089 | pubmed:articleTitle | Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia. | lld:pubmed |
| pubmed-article:19581089 | pubmed:affiliation | Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China. | lld:pubmed |
| pubmed-article:19581089 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19581089 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6908 | entrezgene:pubmed | pubmed-article:19581089 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19581089 | lld:entrezgene |
