Source:http://linkedlifedata.com/resource/pubmed/id/17325180
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2007-2-27
|
| pubmed:abstractText |
Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina, leading to night blindness and loss of the peripheral visual field. PRPF31 is one of four pre-mRNA splicing factors identified as causing autosomal dominant retinitis pigmentosa, with incomplete penetrance being the unique feature associated with mutations in this gene. The purpose of this study was to identify PRPF31 mutations in a cohort of 118 cases of autosomal dominant retinitis pigmentosa and determine the genotype-phenotype correlation emerging from the spectrum of mutations in this gene.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0146-0404
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
48
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1330-4
|
| pubmed:meshHeading |
pubmed-meshheading:17325180-Adolescent,
pubmed-meshheading:17325180-Adult,
pubmed-meshheading:17325180-Age of Onset,
pubmed-meshheading:17325180-Aged,
pubmed-meshheading:17325180-DNA Mutational Analysis,
pubmed-meshheading:17325180-Eye Proteins,
pubmed-meshheading:17325180-Female,
pubmed-meshheading:17325180-Genes, Dominant,
pubmed-meshheading:17325180-Genotype,
pubmed-meshheading:17325180-Great Britain,
pubmed-meshheading:17325180-Humans,
pubmed-meshheading:17325180-Male,
pubmed-meshheading:17325180-Middle Aged,
pubmed-meshheading:17325180-Mutation,
pubmed-meshheading:17325180-Pedigree,
pubmed-meshheading:17325180-Phenotype,
pubmed-meshheading:17325180-Polymerase Chain Reaction,
pubmed-meshheading:17325180-Prevalence,
pubmed-meshheading:17325180-RNA Splicing,
pubmed-meshheading:17325180-Retinitis Pigmentosa
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
|
| pubmed:affiliation |
Department of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|