| pubmed-article:11062306 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C0854723 | lld:lifeskim |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C0441748 | lld:lifeskim |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C1419622 | lld:lifeskim |
| pubmed-article:11062306 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:11062306 | pubmed:dateCreated | 2000-11-8 | lld:pubmed |
| pubmed-article:11062306 | pubmed:abstractText | We have been engaged in an ongoing study to screen candidate genes for mutations in small families with various forms of autosomal recessive retinal dystrophy. Here we report the screening of a cohort of 14 families from Sardinia for mutations in the genes encoding the alpha- and beta-subunits of cGMP-phosphodiesterase and RPE65 (PDE6A, PDE6B, and RPE65). | lld:pubmed |
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| pubmed-article:11062306 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11062306 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11062306 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11062306 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11062306 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11062306 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11062306 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11062306 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11062306 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:11062306 | pubmed:issn | 1090-0535 | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:FarberD BDB | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:JacobsonS GSG | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:RapoportA LAL | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:WrightA FAF | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:DancigerMM | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:CideciyanA... | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:FossarelloMM | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:AlemanT STS | lld:pubmed |
| pubmed-article:11062306 | pubmed:author | pubmed-author:PoehnerW JWJ | lld:pubmed |
| pubmed-article:11062306 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:11062306 | pubmed:day | 30 | lld:pubmed |
| pubmed-article:11062306 | pubmed:volume | 6 | lld:pubmed |
| pubmed-article:11062306 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11062306 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11062306 | pubmed:pagination | 192-8 | lld:pubmed |
| pubmed-article:11062306 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:11062306 | pubmed:meshHeading | pubmed-meshheading:11062306... | lld:pubmed |
| pubmed-article:11062306 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11062306 | pubmed:articleTitle | A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy. | lld:pubmed |
| pubmed-article:11062306 | pubmed:affiliation | Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095-7008, USA. | lld:pubmed |
| pubmed-article:11062306 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11062306 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:11062306 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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