pubmed-article:17061239 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C0337810 | lld:lifeskim |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C1424915 | lld:lifeskim |
pubmed-article:17061239 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
pubmed-article:17061239 | pubmed:issue | 5 | lld:pubmed |
pubmed-article:17061239 | pubmed:dateCreated | 2006-10-24 | lld:pubmed |
pubmed-article:17061239 | pubmed:abstractText | To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. | lld:pubmed |
pubmed-article:17061239 | pubmed:language | eng | lld:pubmed |
pubmed-article:17061239 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17061239 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:17061239 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17061239 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17061239 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17061239 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:17061239 | pubmed:issn | 1120-6721 | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:RinaldiMM | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:RossiSS | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:BanfiSS | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:SimonelliFF | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:CiccodicolaAA | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:InterlandiEE | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:TestaFF | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:ZivielloCC | lld:pubmed |
pubmed-article:17061239 | pubmed:author | pubmed-author:Di IorioVV | lld:pubmed |
pubmed-article:17061239 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:17061239 | pubmed:volume | 16 | lld:pubmed |
pubmed-article:17061239 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:17061239 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:17061239 | pubmed:pagination | 779-81 | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:meshHeading | pubmed-meshheading:17061239... | lld:pubmed |
pubmed-article:17061239 | pubmed:articleTitle | Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. | lld:pubmed |
pubmed-article:17061239 | pubmed:affiliation | Department of Ophthalmology, Second University of Napoli, Napoli, Italy. | lld:pubmed |
pubmed-article:17061239 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:17061239 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:17061239 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
entrez-gene:10594 | entrezgene:pubmed | pubmed-article:17061239 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17061239 | lld:entrezgene |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17061239 | lld:pubmed |