Linked Life Data

19581089

Source:http://linkedlifedata.com/resource/pubmed/id/19581089

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2009-8-26
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0967-5868
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1374-5
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
pubmed:affiliation
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't