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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 |
2008-3-25
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pubmed:abstractText |
To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP).
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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 |
Mar
|
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pubmed:issn |
1744-5094
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
29-32
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pubmed:dateRevised |
2009-9-9
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pubmed:meshHeading |
pubmed-meshheading:18363170-Alcohol Oxidoreductases,
pubmed-meshheading:18363170-Child,
pubmed-meshheading:18363170-Female,
pubmed-meshheading:18363170-Fundus Oculi,
pubmed-meshheading:18363170-Genes, Recessive,
pubmed-meshheading:18363170-Heterozygote,
pubmed-meshheading:18363170-Humans,
pubmed-meshheading:18363170-Mutation, Missense,
pubmed-meshheading:18363170-Night Blindness,
pubmed-meshheading:18363170-Pedigree,
pubmed-meshheading:18363170-Retina,
pubmed-meshheading:18363170-Retinitis Pigmentosa
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pubmed:year |
2008
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|
pubmed:articleTitle |
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
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pubmed:affiliation |
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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