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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-4-10
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pubmed:abstractText |
To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder.
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pubmed:grant |
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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 |
Apr
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
553-7
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pubmed:dateRevised |
2007-8-13
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pubmed:meshHeading |
pubmed-meshheading:17420318-Abnormalities, Multiple,
pubmed-meshheading:17420318-Adult,
pubmed-meshheading:17420318-Aged,
pubmed-meshheading:17420318-Amino Acid Sequence,
pubmed-meshheading:17420318-Base Sequence,
pubmed-meshheading:17420318-DNA Mutational Analysis,
pubmed-meshheading:17420318-DNA-Directed DNA Polymerase,
pubmed-meshheading:17420318-Family Health,
pubmed-meshheading:17420318-Female,
pubmed-meshheading:17420318-Haplotypes,
pubmed-meshheading:17420318-Humans,
pubmed-meshheading:17420318-Male,
pubmed-meshheading:17420318-Middle Aged,
pubmed-meshheading:17420318-Molecular Sequence Data,
pubmed-meshheading:17420318-Mutation,
pubmed-meshheading:17420318-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:17420318-Parkinsonian Disorders,
pubmed-meshheading:17420318-Pedigree,
pubmed-meshheading:17420318-Sequence Homology, Amino Acid,
pubmed-meshheading:17420318-Sequence Homology, Nucleic Acid
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pubmed:year |
2007
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pubmed:articleTitle |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
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pubmed:affiliation |
Mitochondrial Research Group, University of Newcastle upon Tyne, United Kingdom.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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