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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1999-2-10
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pubmed:abstractText |
The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation.
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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 |
Sep
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pubmed:issn |
1381-6810
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
131-9
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:9810568-Adult,
pubmed-meshheading:9810568-Aged,
pubmed-meshheading:9810568-Amino Acid Substitution,
pubmed-meshheading:9810568-Disease Progression,
pubmed-meshheading:9810568-Electroretinography,
pubmed-meshheading:9810568-Female,
pubmed-meshheading:9810568-Fluorescein Angiography,
pubmed-meshheading:9810568-Fundus Oculi,
pubmed-meshheading:9810568-Genes, Dominant,
pubmed-meshheading:9810568-Humans,
pubmed-meshheading:9810568-Male,
pubmed-meshheading:9810568-Middle Aged,
pubmed-meshheading:9810568-Mutation,
pubmed-meshheading:9810568-Pedigree,
pubmed-meshheading:9810568-Retinitis Pigmentosa,
pubmed-meshheading:9810568-Rhodopsin,
pubmed-meshheading:9810568-Vision, Ocular
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pubmed:year |
1998
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pubmed:articleTitle |
Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
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pubmed:affiliation |
Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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