Source:http://linkedlifedata.com/resource/pubmed/id/16804265
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2006-6-28
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pubmed:abstractText |
Chronic progressive external ophthalmoplagia (CPEO) is a phenotypic mitochondrial disorder that affects external ocular and skeletal muscles and is associated with a single or multiple mitochondrial DNA (mtDNA) deletions and also nuclear gene mutations. There are also some reports about the relationship between CPEO and the nuclear Twinkle gene which encodes a kind of mitochondrial protein called Twinkle.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0028-3886
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
54
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
182-5
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pubmed:dateRevised |
2010-6-2
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pubmed:meshHeading |
pubmed-meshheading:16804265-Adult,
pubmed-meshheading:16804265-DNA, Mitochondrial,
pubmed-meshheading:16804265-DNA Helicases,
pubmed-meshheading:16804265-DNA Primase,
pubmed-meshheading:16804265-Female,
pubmed-meshheading:16804265-Gene Deletion,
pubmed-meshheading:16804265-Humans,
pubmed-meshheading:16804265-Iran,
pubmed-meshheading:16804265-Male,
pubmed-meshheading:16804265-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:16804265-Point Mutation,
pubmed-meshheading:16804265-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2006
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pubmed:articleTitle |
Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia.
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pubmed:affiliation |
Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran. massoudh@nrcgeb.ac.ir
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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