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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2004-8-10
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pubmed:abstractText |
To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men.
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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 |
Aug
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pubmed:issn |
0003-9950
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
122
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1203-7
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15302662-Adult,
pubmed-meshheading:15302662-Alcohol Oxidoreductases,
pubmed-meshheading:15302662-Diseases in Twins,
pubmed-meshheading:15302662-Electroretinography,
pubmed-meshheading:15302662-Female,
pubmed-meshheading:15302662-Fluorescein Angiography,
pubmed-meshheading:15302662-Humans,
pubmed-meshheading:15302662-Night Blindness,
pubmed-meshheading:15302662-Pedigree,
pubmed-meshheading:15302662-Polymerase Chain Reaction,
pubmed-meshheading:15302662-Retinal Cone Photoreceptor Cells,
pubmed-meshheading:15302662-Retinal Degeneration,
pubmed-meshheading:15302662-Twins, Monozygotic,
pubmed-meshheading:15302662-Visual Acuity
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pubmed:year |
2004
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pubmed:articleTitle |
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
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pubmed:affiliation |
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan. makonaka@med.nagoya-u.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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