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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2004-2-17
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pubmed:abstractText |
Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Because the number of triplets in patients with SCA17 in previous studies ranged from 43 to 63, the normal number of trinucleotide units has been considered to be 42 or less. However, some healthy subjects in SCA17 pedigrees carry alleles with the same number of expanded repeats as patients with SCA17.
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pubmed:commentsCorrections |
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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 |
Feb
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:IchikawaKeijiK,
pubmed-author:ImamuraTohruT,
pubmed-author:IzumiYuishinY,
pubmed-author:KawakamiHideshiH,
pubmed-author:KomureOsamuO,
pubmed-author:MaruyamaHirofumiH,
pubmed-author:MatsumotoMasayasuM,
pubmed-author:MorinoHiroyukiH,
pubmed-author:OdaMasayaM,
pubmed-author:OgawaMasafumiM,
pubmed-author:TerasawaHideoH,
pubmed-author:YasudaMinoruM
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pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
209-12
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14967767-Adult,
pubmed-meshheading:14967767-Alleles,
pubmed-meshheading:14967767-Alzheimer Disease,
pubmed-meshheading:14967767-DNA,
pubmed-meshheading:14967767-DNA Primers,
pubmed-meshheading:14967767-Dementia,
pubmed-meshheading:14967767-Female,
pubmed-meshheading:14967767-Gait Ataxia,
pubmed-meshheading:14967767-Humans,
pubmed-meshheading:14967767-Male,
pubmed-meshheading:14967767-Memory Disorders,
pubmed-meshheading:14967767-Middle Aged,
pubmed-meshheading:14967767-Myoclonus,
pubmed-meshheading:14967767-Pedigree,
pubmed-meshheading:14967767-Penetrance,
pubmed-meshheading:14967767-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:14967767-Speech Disorders,
pubmed-meshheading:14967767-Spinocerebellar Ataxias,
pubmed-meshheading:14967767-TATA-Box Binding Protein,
pubmed-meshheading:14967767-Trinucleotide Repeats
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pubmed:year |
2004
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pubmed:articleTitle |
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
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pubmed:affiliation |
Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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