Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-7-26
pubmed:abstractText
Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-10627133, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-10765968, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-10800708, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-11139263, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-11427722, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-11553636, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-12019563, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-12137760, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-12221539, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-14557183, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-1679750, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-2643100, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-3431470, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-7493155, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-7747760, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-7862413, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-7880786, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8202715, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8240110, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8244346, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8485574, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8485576, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8747448, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-8956033, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-9010868, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-9279751, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-9338584, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-9443872, http://linkedlifedata.com/resource/pubmed/commentcorrection/17653047-9810570
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1031-7
pubmed:dateRevised
2010-9-15
pubmed:meshHeading
pubmed-meshheading:17653047-Adult, pubmed-meshheading:17653047-Aged, pubmed-meshheading:17653047-Amino Acid Substitution, pubmed-meshheading:17653047-Arginine, pubmed-meshheading:17653047-Codon, Nonsense, pubmed-meshheading:17653047-Cytosine, pubmed-meshheading:17653047-Fundus Oculi, pubmed-meshheading:17653047-Gene Frequency, pubmed-meshheading:17653047-Genes, Dominant, pubmed-meshheading:17653047-Humans, pubmed-meshheading:17653047-Intermediate Filament Proteins, pubmed-meshheading:17653047-Introns, pubmed-meshheading:17653047-Macular Degeneration, pubmed-meshheading:17653047-Membrane Glycoproteins, pubmed-meshheading:17653047-Middle Aged, pubmed-meshheading:17653047-Mutation, pubmed-meshheading:17653047-Mutation, Missense, pubmed-meshheading:17653047-Nerve Tissue Proteins, pubmed-meshheading:17653047-Pedigree, pubmed-meshheading:17653047-Protein Splicing, pubmed-meshheading:17653047-Spain, pubmed-meshheading:17653047-Thymine, pubmed-meshheading:17653047-Tryptophan
pubmed:year
2007
pubmed:articleTitle
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
pubmed:affiliation
Servicio de Laboratorio, Biología y Genética Molecular Hospital de Terrassa, Ctra. Torrebonica, Terrassa, Barcelona, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't