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17562939
Source:
http://linkedlifedata.com/resource/pubmed/id/17562939
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0678227
,
umls-concept:C0917796
,
umls-concept:C1424660
,
umls-concept:C1838879
pubmed:issue
6
pubmed:dateCreated
2007-6-12
pubmed:abstractText
To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia.
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/NADH Dehydrogenase
,
http://linkedlifedata.com/resource/pubmed/chemical/NADH dehydrogenase subunit 1, human
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0003-9942
pubmed:author
pubmed-author:Bettink-RemeijerMarijke WefersMW
,
pubmed-author:HendrickxAlexandraA
,
pubmed-author:HintzenRogier QRQ
,
pubmed-author:Maat-KievitAA
,
pubmed-author:SchoonderwoerdKees CKC
,
pubmed-author:SluiterWimW
,
pubmed-author:SmeetsHubert JHJ
,
pubmed-author:SpruijtLiesbethL
,
pubmed-author:de CooIreneaus FIF
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
890-3
pubmed:dateRevised
2007-8-10
pubmed:meshHeading
pubmed-meshheading:17562939-Adenine
,
pubmed-meshheading:17562939-Adult
,
pubmed-meshheading:17562939-DNA, Mitochondrial
,
pubmed-meshheading:17562939-Dystonia
,
pubmed-meshheading:17562939-Female
,
pubmed-meshheading:17562939-Guanine
,
pubmed-meshheading:17562939-Humans
,
pubmed-meshheading:17562939-MELAS Syndrome
,
pubmed-meshheading:17562939-Muscle Spasticity
,
pubmed-meshheading:17562939-Mutation
,
pubmed-meshheading:17562939-NADH Dehydrogenase
,
pubmed-meshheading:17562939-Oligonucleotide Array Sequence Analysis
,
pubmed-meshheading:17562939-Optic Atrophy, Hereditary, Leber
pubmed:year
2007
pubmed:articleTitle
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
pubmed:affiliation
Department of Genetics and Cell Biology, University of Maastricht, PO Box 616, 6200 MD Maastricht, the Netherlands.
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't