20587494

Source:http://linkedlifedata.com/resource/pubmed/id/20587494

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0017797, umls-concept:C0087012, umls-concept:C0144555, umls-concept:C0332281, umls-concept:C0332307, umls-concept:C1709915
pubmed:issue	12
pubmed:dateCreated	2010-11-22
pubmed:abstractText	Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ?43.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985191R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, http://linkedlifedata.com/resource/pubmed/chemical/Glutamine, http://linkedlifedata.com/resource/pubmed/chemical/TATA-Box Binding Protein
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	1468-330X
pubmed:author	pubmed-author:LichyCC, pubmed-author:MüllerUU, pubmed-author:NolteDD, pubmed-author:RegulaJ UJU, pubmed-author:SobanskaMM, pubmed-author:WisselCC
pubmed:issnType	Electronic
pubmed:volume	81
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1396-9
pubmed:meshHeading	pubmed-meshheading:20587494-Adult, pubmed-meshheading:20587494-Aged, pubmed-meshheading:20587494-Alleles, pubmed-meshheading:20587494-Atrophy, pubmed-meshheading:20587494-Cerebellum, pubmed-meshheading:20587494-Chromosome Aberrations, pubmed-meshheading:20587494-Codon, pubmed-meshheading:20587494-Female, pubmed-meshheading:20587494-Genes, Dominant, pubmed-meshheading:20587494-Glutamine, pubmed-meshheading:20587494-Humans, pubmed-meshheading:20587494-Magnetic Resonance Imaging, pubmed-meshheading:20587494-Male, pubmed-meshheading:20587494-Middle Aged, pubmed-meshheading:20587494-Pedigree, pubmed-meshheading:20587494-Penetrance, pubmed-meshheading:20587494-Spinocerebellar Ataxias, pubmed-meshheading:20587494-TATA-Box Binding Protein, pubmed-meshheading:20587494-Trinucleotide Repeat Expansion, pubmed-meshheading:20587494-Young Adult
pubmed:year	2010
pubmed:articleTitle	Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.
pubmed:affiliation	Institut für Humangenetik, Justus-Liebig Universität Giessen, Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de
pubmed:publicationType	Journal Article