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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
1996-10-25
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pubmed:abstractText |
To report the clinical and functional characteristics of patients affected with autosomal-dominant transmitted retinitis pigmentosa (adRP) from a large Italian pedigree in which a point mutation predicting the Arg-135-Trp change of rhodopsin was identified by polymerase chain reaction-single-strand conformation polymorphism analysis.
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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 |
0161-6420
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pubmed:author |
|
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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 |
1443-52
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8841304-Adolescent,
pubmed-meshheading:8841304-Adult,
pubmed-meshheading:8841304-Arginine,
pubmed-meshheading:8841304-Child,
pubmed-meshheading:8841304-DNA,
pubmed-meshheading:8841304-Electroretinography,
pubmed-meshheading:8841304-Female,
pubmed-meshheading:8841304-Humans,
pubmed-meshheading:8841304-Longitudinal Studies,
pubmed-meshheading:8841304-Male,
pubmed-meshheading:8841304-Pedigree,
pubmed-meshheading:8841304-Phenotype,
pubmed-meshheading:8841304-Point Mutation,
pubmed-meshheading:8841304-Polymerase Chain Reaction,
pubmed-meshheading:8841304-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8841304-Retina,
pubmed-meshheading:8841304-Retinitis Pigmentosa,
pubmed-meshheading:8841304-Rhodopsin,
pubmed-meshheading:8841304-Tryptophan,
pubmed-meshheading:8841304-Visual Fields
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pubmed:year |
1996
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pubmed:articleTitle |
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.
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pubmed:affiliation |
Center for Inherited Degenerative retinal Disorders, University La Sapienza, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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