17724218

Source:http://linkedlifedata.com/resource/pubmed/id/17724218

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0030705, umls-concept:C0086345, umls-concept:C0205210, umls-concept:C0337810, umls-concept:C0339527, umls-concept:C1096776
pubmed:issue	9
pubmed:dateCreated	2007-8-28
pubmed:abstractText	To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Antigens, Neoplasm, http://linkedlifedata.com/resource/pubmed/chemical/CRB1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Cep290 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Guanylate Cyclase, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RPE65 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cell Surface, http://linkedlifedata.com/resource/pubmed/chemical/guanylate cyclase 1
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0146-0404
pubmed:author	pubmed-author:AuricchioAlbertoA, pubmed-author:BanfiSandroS, pubmed-author:BertoneChiaraC, pubmed-author:BianchiPaolo EmilioPE, pubmed-author:BrancatiFrancescoF, pubmed-author:CiccodicolaAlfredoA, pubmed-author:ElisaFazziF, pubmed-author:FossarelloMaurizioM, pubmed-author:GalantuomoSilvanaS, pubmed-author:RinaldiErnestoE, pubmed-author:RossiSettimioS, pubmed-author:SabrinaSignoriniS, pubmed-author:SimonelliFrancescaF, pubmed-author:TestaFrancescoF, pubmed-author:ValenteEnza MariaEM, pubmed-author:ZivielloCarmelaC
pubmed:issnType	Print
pubmed:volume	48
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	4284-90
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:17724218-Antigens, Neoplasm, pubmed-meshheading:17724218-Blindness, pubmed-meshheading:17724218-Carrier Proteins, pubmed-meshheading:17724218-DNA Mutational Analysis, pubmed-meshheading:17724218-Eye Proteins, pubmed-meshheading:17724218-Gene Expression Profiling, pubmed-meshheading:17724218-Genotype, pubmed-meshheading:17724218-Guanylate Cyclase, pubmed-meshheading:17724218-Humans, pubmed-meshheading:17724218-Italy, pubmed-meshheading:17724218-Membrane Proteins, pubmed-meshheading:17724218-Molecular Biology, pubmed-meshheading:17724218-Molecular Epidemiology, pubmed-meshheading:17724218-Mutation, pubmed-meshheading:17724218-Neoplasm Proteins, pubmed-meshheading:17724218-Nerve Tissue Proteins, pubmed-meshheading:17724218-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:17724218-Phenotype, pubmed-meshheading:17724218-Receptors, Cell Surface, pubmed-meshheading:17724218-Retinal Degeneration, pubmed-meshheading:17724218-Tomography, Optical Coherence
pubmed:year	2007
pubmed:articleTitle	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
pubmed:affiliation	Department of Ophthalmology, Second University of Naples, Naples, Italy. franctes@tin.it
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't, Multicenter Study