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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-11-8
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pubmed:abstractText |
To describe the clinical features of and identify the disease-causing mutation in a large Utah family segregating a dominantly inherited syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia.
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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 |
Nov
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pubmed:issn |
0002-9394
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pubmed:author |
pubmed-author:HillmanToddT,
pubmed-author:KatzBradley JBJ,
pubmed-author:KennedyRichard JRJ,
pubmed-author:MeireFrancoise MFM,
pubmed-author:PayneMarielleM,
pubmed-author:PearsonErik DED,
pubmed-author:TreftRobert LRL,
pubmed-author:WarnerJudith E AJE,
pubmed-author:WeightChristopher JCJ,
pubmed-author:YangZhenglinZ,
pubmed-author:ZhangKangK,
pubmed-author:ZhaoYuY
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pubmed:issnType |
Print
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pubmed:volume |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
749-55
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:15531309-Adolescent,
pubmed-meshheading:15531309-Adult,
pubmed-meshheading:15531309-Aged,
pubmed-meshheading:15531309-Blepharoptosis,
pubmed-meshheading:15531309-Child,
pubmed-meshheading:15531309-Chromosome Mapping,
pubmed-meshheading:15531309-DNA Mutational Analysis,
pubmed-meshheading:15531309-Female,
pubmed-meshheading:15531309-GTP Phosphohydrolases,
pubmed-meshheading:15531309-Hearing Loss, Sensorineural,
pubmed-meshheading:15531309-Humans,
pubmed-meshheading:15531309-Male,
pubmed-meshheading:15531309-Middle Aged,
pubmed-meshheading:15531309-Mutation, Missense,
pubmed-meshheading:15531309-Ophthalmoplegia,
pubmed-meshheading:15531309-Optic Atrophy, Autosomal Dominant,
pubmed-meshheading:15531309-Pedigree,
pubmed-meshheading:15531309-Syndrome
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pubmed:year |
2004
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pubmed:articleTitle |
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
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pubmed:affiliation |
Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences Center, Salt Lake City, Utah, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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