16186331

Source:http://linkedlifedata.com/resource/pubmed/id/16186331

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017258, umls-concept:C0024779, umls-concept:C0035334, umls-concept:C0205314, umls-concept:C0330095, umls-concept:C0443147, umls-concept:C0679622, umls-concept:C0854723, umls-concept:C1704638, umls-concept:C1708726, umls-concept:C2350017
pubmed:issue	10
pubmed:dateCreated	2005-9-27
pubmed:abstractText	To characterize clinically and genetically a four-generation Italian family with autosomal dominant retinal dystrophy.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/GUCA1A protein, human, http://linkedlifedata.com/resource/pubmed/chemical/GUCA1B protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Guanylate Cyclase-Activating..., http://linkedlifedata.com/resource/pubmed/chemical/Intermediate Filament Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	0146-0404
pubmed:author	pubmed-author:BrancatiFrancescoF, pubmed-author:CaputoVivianaV, pubmed-author:CastoriMarcoM, pubmed-author:ClementiMaurizioM, pubmed-author:DallapiccolaBrunoB, pubmed-author:TormeneAlma PatriziaAP, pubmed-author:ValenteEnza MariaEM
pubmed:issnType	Print
pubmed:volume	46
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	3539-44
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:16186331-Adult, pubmed-meshheading:16186331-Aged, pubmed-meshheading:16186331-Aged, 80 and over, pubmed-meshheading:16186331-Chromosome Mapping, pubmed-meshheading:16186331-Chromosomes, Human, Pair 6, pubmed-meshheading:16186331-Electrooculography, pubmed-meshheading:16186331-Electroretinography, pubmed-meshheading:16186331-Female, pubmed-meshheading:16186331-Genes, Dominant, pubmed-meshheading:16186331-Genetic Linkage, pubmed-meshheading:16186331-Guanylate Cyclase-Activating Proteins, pubmed-meshheading:16186331-Humans, pubmed-meshheading:16186331-Intermediate Filament Proteins, pubmed-meshheading:16186331-Lod Score, pubmed-meshheading:16186331-Male, pubmed-meshheading:16186331-Membrane Glycoproteins, pubmed-meshheading:16186331-Middle Aged, pubmed-meshheading:16186331-Nerve Tissue Proteins, pubmed-meshheading:16186331-Pedigree, pubmed-meshheading:16186331-Photoreceptor Cells, Vertebrate, pubmed-meshheading:16186331-Retinal Degeneration, pubmed-meshheading:16186331-Visual Acuity
pubmed:year	2005
pubmed:articleTitle	A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
pubmed:affiliation	Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza (IRCCS CSS), Mendel Institute, Rome, Italy.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't