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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-11
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pubmed:abstractText |
Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.
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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 |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1872-8464
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pubmed:author |
pubmed-author:FerekidouElisabethE,
pubmed-author:GrigoriadouMariaM,
pubmed-author:GuanMin-XinMX,
pubmed-author:GyftodimouYolandaY,
pubmed-author:KandilorosDimitriosD,
pubmed-author:KokotasHarisH,
pubmed-author:KorresGeorge SGS,
pubmed-author:KorresStavrosS,
pubmed-author:LodahlMarianneM,
pubmed-author:PetersenMichael BMB,
pubmed-author:RendtorffNanna DahlND,
pubmed-author:TranebjærgLisbethL,
pubmed-author:YangLiL
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pubmed:copyrightInfo |
Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
75
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
89-94
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pubmed:meshHeading |
pubmed-meshheading:21056478-Connexins,
pubmed-meshheading:21056478-DNA, Mitochondrial,
pubmed-meshheading:21056478-Female,
pubmed-meshheading:21056478-Follow-Up Studies,
pubmed-meshheading:21056478-Genes, Mitochondrial,
pubmed-meshheading:21056478-Genetic Predisposition to Disease,
pubmed-meshheading:21056478-Greece,
pubmed-meshheading:21056478-Hearing Loss,
pubmed-meshheading:21056478-Heterozygote Detection,
pubmed-meshheading:21056478-Humans,
pubmed-meshheading:21056478-Male,
pubmed-meshheading:21056478-Pedigree,
pubmed-meshheading:21056478-Point Mutation,
pubmed-meshheading:21056478-RNA, Transfer,
pubmed-meshheading:21056478-Risk Assessment
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pubmed:year |
2011
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pubmed:articleTitle |
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
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pubmed:affiliation |
Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. hkokotas@yahoo.gr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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