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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 |
2001-7-25
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pubmed:abstractText |
Recent studies show that mutations in the gene encoding 11-cis retinol dehydrogenase are associated with fundus albipunctatus. The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases.
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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 |
Aug
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pubmed:issn |
0161-6420
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
108
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1479-84
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11470705-Adult,
pubmed-meshheading:11470705-Alcohol Oxidoreductases,
pubmed-meshheading:11470705-Base Sequence,
pubmed-meshheading:11470705-Case-Control Studies,
pubmed-meshheading:11470705-Child,
pubmed-meshheading:11470705-DNA Mutational Analysis,
pubmed-meshheading:11470705-Exons,
pubmed-meshheading:11470705-Eye Diseases, Hereditary,
pubmed-meshheading:11470705-Female,
pubmed-meshheading:11470705-Fundus Oculi,
pubmed-meshheading:11470705-Humans,
pubmed-meshheading:11470705-Molecular Sequence Data,
pubmed-meshheading:11470705-Mutation,
pubmed-meshheading:11470705-Night Blindness,
pubmed-meshheading:11470705-Nucleic Acid Hybridization,
pubmed-meshheading:11470705-Pedigree
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pubmed:year |
2001
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pubmed:articleTitle |
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
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pubmed:affiliation |
Department of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands. c.driessen@ohk.azn.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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