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19578034
Source:
http://linkedlifedata.com/resource/pubmed/id/19578034
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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:C0205210
,
umls-concept:C1418731
,
umls-concept:C2827424
pubmed:issue
11
pubmed:dateCreated
2009-11-2
pubmed:abstractText
Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial
,
http://linkedlifedata.com/resource/pubmed/chemical/DNA polymerase gamma
,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Directed DNA Polymerase
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1468-6244
pubmed:author
pubmed-author:BierauJJ
,
pubmed-author:BlomM LML
,
pubmed-author:BrusseEE
,
pubmed-author:HendrickxAA
,
pubmed-author:HoogendijkJ EJE
,
pubmed-author:JongenEE
,
pubmed-author:Poll-TheB TBT
,
pubmed-author:SmeetsH JHJ
,
pubmed-author:de CooI FIF
,
pubmed-author:de Die-SmuldersC ECE
,
pubmed-author:de VisserMM
,
pubmed-author:van den BoschB JBJ
pubmed:issnType
Electronic
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
776-85
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:19578034-Adolescent
,
pubmed-meshheading:19578034-Adult
,
pubmed-meshheading:19578034-Aged
,
pubmed-meshheading:19578034-Amino Acid Sequence
,
pubmed-meshheading:19578034-Child
,
pubmed-meshheading:19578034-Child, Preschool
,
pubmed-meshheading:19578034-Cohort Studies
,
pubmed-meshheading:19578034-Computer Simulation
,
pubmed-meshheading:19578034-DNA, Mitochondrial
,
pubmed-meshheading:19578034-DNA Mutational Analysis
,
pubmed-meshheading:19578034-DNA-Directed DNA Polymerase
,
pubmed-meshheading:19578034-Female
,
pubmed-meshheading:19578034-Gene Frequency
,
pubmed-meshheading:19578034-Humans
,
pubmed-meshheading:19578034-Male
,
pubmed-meshheading:19578034-Middle Aged
,
pubmed-meshheading:19578034-Molecular Sequence Data
,
pubmed-meshheading:19578034-Mutation
,
pubmed-meshheading:19578034-Ophthalmoplegia, Chronic Progressive External
,
pubmed-meshheading:19578034-Pedigree
,
pubmed-meshheading:19578034-Phenotype
,
pubmed-meshheading:19578034-Primary Ovarian Insufficiency
,
pubmed-meshheading:19578034-Sequence Alignment
pubmed:year
2009
pubmed:articleTitle
The unfolding clinical spectrum of POLG mutations.
pubmed:affiliation
Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
pubmed:publicationType
Journal Article