| pubmed-article:11910559 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11910559 | lifeskim:mentions | umls-concept:C0339527 | lld:lifeskim |
| pubmed-article:11910559 | lifeskim:mentions | umls-concept:C0017431 | lld:lifeskim |
| pubmed-article:11910559 | lifeskim:mentions | umls-concept:C1413723 | lld:lifeskim |
| pubmed-article:11910559 | lifeskim:mentions | umls-concept:C0234621 | lld:lifeskim |
| pubmed-article:11910559 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:11910559 | pubmed:dateCreated | 2002-3-22 | lld:pubmed |
| pubmed-article:11910559 | pubmed:abstractText | In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years. | lld:pubmed |
| pubmed-article:11910559 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11910559 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11910559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11910559 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11910559 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:11910559 | pubmed:issn | 1381-6810 | lld:pubmed |
| pubmed-article:11910559 | pubmed:author | pubmed-author:KoenekoopRobe... | lld:pubmed |
| pubmed-article:11910559 | pubmed:author | pubmed-author:LoyerMagaliM | lld:pubmed |
| pubmed-article:11910559 | pubmed:author | pubmed-author:DembinskaOlga... | lld:pubmed |
| pubmed-article:11910559 | pubmed:author | pubmed-author:BeneishRaquel... | lld:pubmed |
| pubmed-article:11910559 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11910559 | pubmed:volume | 23 | lld:pubmed |
| pubmed-article:11910559 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11910559 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11910559 | pubmed:pagination | 49-59 | lld:pubmed |
| pubmed-article:11910559 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:meshHeading | pubmed-meshheading:11910559... | lld:pubmed |
| pubmed-article:11910559 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11910559 | pubmed:articleTitle | Visual improvement in Leber congenital amaurosis and the CRX genotype. | lld:pubmed |
| pubmed-article:11910559 | pubmed:affiliation | The Children's Vision Center, Montreal Children's Hospital and Research Institute, McGill University, Montreal, PQ, Canada. robert.koenekoop@muhc.mcgill.ca | lld:pubmed |
| pubmed-article:11910559 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11910559 | pubmed:publicationType | Comparative Study | lld:pubmed |
| entrez-gene:1406 | entrezgene:pubmed | pubmed-article:11910559 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:11910559 | lld:entrezgene |
