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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2000-1-27
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|
pubmed:abstractText |
Choroideremia is an X-linked hereditary eye disease that causes progressive degeneration of the choroid and retina and frequently leads to legal blindness in later life. Recent molecular genetic studies have revealed mutations involving the Rab escort protein (REP-1) gene localized at Xq 21.
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pubmed:language |
jpn
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pubmed:journal |
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|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0029-0203
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
103
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
773-81
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pubmed:dateRevised |
2011-7-28
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pubmed:meshHeading |
pubmed-meshheading:10589235-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:10589235-Adolescent,
pubmed-meshheading:10589235-Adult,
pubmed-meshheading:10589235-Alkyl and Aryl Transferases,
pubmed-meshheading:10589235-Carrier Proteins,
pubmed-meshheading:10589235-Child,
pubmed-meshheading:10589235-Choroideremia,
pubmed-meshheading:10589235-Female,
pubmed-meshheading:10589235-Fundus Oculi,
pubmed-meshheading:10589235-Heterozygote,
pubmed-meshheading:10589235-Humans,
pubmed-meshheading:10589235-Male,
pubmed-meshheading:10589235-Middle Aged,
pubmed-meshheading:10589235-Protein Prenylation,
pubmed-meshheading:10589235-Visual Fields,
pubmed-meshheading:10589235-rab GTP-Binding Proteins
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pubmed:year |
1999
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pubmed:articleTitle |
[Clinical and genetic features of choroideremia].
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|
pubmed:affiliation |
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
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