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12056939
Source:
http://linkedlifedata.com/resource/pubmed/id/12056939
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53
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0012929
,
umls-concept:C0026882
,
umls-concept:C0039082
,
umls-concept:C0205494
,
umls-concept:C0332281
,
umls-concept:C0439855
pubmed:issue
6
pubmed:dateCreated
2002-6-11
pubmed:abstractText
To confirm the pathogenicity of the G-to-A substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA (mtDNA) tRNA(Val) gene, and to characterize genotype-phenotype correlation.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/NS11766
,
http://linkedlifedata.com/resource/pubmed/grant/P01HD32062
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0372436
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Adenine
,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial
,
http://linkedlifedata.com/resource/pubmed/chemical/Guanine
,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Transfer
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0003-9942
pubmed:author
pubmed-author:BonillaEduardoE
,
pubmed-author:DiMauroSalvatoreS
,
pubmed-author:GoochCliftonC
,
pubmed-author:SacconiSabrinaS
,
pubmed-author:SalviatiLeonardoL
,
pubmed-author:ShanskeSaraS
pubmed:issnType
Print
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1013-5
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:12056939-Adenine
,
pubmed-meshheading:12056939-Adult
,
pubmed-meshheading:12056939-Brain
,
pubmed-meshheading:12056939-DNA, Mitochondrial
,
pubmed-meshheading:12056939-Guanine
,
pubmed-meshheading:12056939-Humans
,
pubmed-meshheading:12056939-Male
,
pubmed-meshheading:12056939-Muscle, Skeletal
,
pubmed-meshheading:12056939-Mutation
,
pubmed-meshheading:12056939-Nervous System Diseases
,
pubmed-meshheading:12056939-RNA, Transfer
,
pubmed-meshheading:12056939-Syndrome
pubmed:year
2002
pubmed:articleTitle
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
pubmed:affiliation
Department of Neurology, Columbia University, New York, NY, USA.
pubmed:publicationType
Journal Article
,
Research Support, U.S. Gov't, P.H.S.
,
Case Reports
,
Research Support, Non-U.S. Gov't