pubmed-article:20881296 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:20881296 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:20881296 | lifeskim:mentions | umls-concept:C0339527 | lld:lifeskim |
pubmed-article:20881296 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:20881296 | lifeskim:mentions | umls-concept:C1428754 | lld:lifeskim |
pubmed-article:20881296 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:20881296 | pubmed:dateCreated | 2011-2-14 | lld:pubmed |
pubmed-article:20881296 | pubmed:abstractText | Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ?70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA. | lld:pubmed |
pubmed-article:20881296 | pubmed:language | eng | lld:pubmed |
pubmed-article:20881296 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:20881296 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:20881296 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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pubmed-article:20881296 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:20881296 | pubmed:month | Feb | lld:pubmed |
pubmed-article:20881296 | pubmed:issn | 1552-5783 | lld:pubmed |
pubmed-article:20881296 | pubmed:author | pubmed-author:JacobsonSamue... | lld:pubmed |
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pubmed-article:20881296 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:20881296 | pubmed:volume | 52 | lld:pubmed |
pubmed-article:20881296 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:20881296 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:20881296 | pubmed:pagination | 834-9 | lld:pubmed |
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pubmed-article:20881296 | pubmed:year | 2011 | lld:pubmed |
pubmed-article:20881296 | pubmed:articleTitle | IQCB1 mutations in patients with leber congenital amaurosis. | lld:pubmed |
pubmed-article:20881296 | pubmed:affiliation | Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. | lld:pubmed |
pubmed-article:20881296 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:20881296 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
entrez-gene:9657 | entrezgene:pubmed | pubmed-article:20881296 | lld:entrezgene |
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