15175914

Source:http://linkedlifedata.com/resource/pubmed/id/15175914

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0035334, umls-concept:C0443147, umls-concept:C1415364, umls-concept:C1556094
pubmed:issue	3
pubmed:dateCreated	2004-6-3
pubmed:abstractText	To describe the clinical phenotypes of two Japanese families with autosomal dominant cone-rod dystrophy (CORD) caused by an R838H or R838C mutation.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0044652
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Arginine, http://linkedlifedata.com/resource/pubmed/chemical/Cysteine, http://linkedlifedata.com/resource/pubmed/chemical/Guanylate Cyclase, http://linkedlifedata.com/resource/pubmed/chemical/Histidine, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Guanylate Cyclase-Coupled, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Peptide, http://linkedlifedata.com/resource/pubmed/chemical/enterotoxin receptor
pubmed:status	MEDLINE
pubmed:issn	0021-5155
pubmed:author	pubmed-author:MiyakeYozoY, pubmed-author:NakamuraMakotoM, pubmed-author:OhnishiYoshitakaY, pubmed-author:YinT YTY
pubmed:issnType	Print
pubmed:volume	48
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	228-35
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:15175914-Adult, pubmed-meshheading:15175914-Arginine, pubmed-meshheading:15175914-Asian Continental Ancestry Group, pubmed-meshheading:15175914-Atrophy, pubmed-meshheading:15175914-Cysteine, pubmed-meshheading:15175914-Electroretinography, pubmed-meshheading:15175914-Female, pubmed-meshheading:15175914-Fluorescein Angiography, pubmed-meshheading:15175914-Fundus Oculi, pubmed-meshheading:15175914-Genes, Dominant, pubmed-meshheading:15175914-Guanylate Cyclase, pubmed-meshheading:15175914-Histidine, pubmed-meshheading:15175914-Humans, pubmed-meshheading:15175914-Male, pubmed-meshheading:15175914-Mutation, pubmed-meshheading:15175914-Pedigree, pubmed-meshheading:15175914-Pigment Epithelium of Eye, pubmed-meshheading:15175914-Receptors, Guanylate Cyclase-Coupled, pubmed-meshheading:15175914-Receptors, Peptide, pubmed-meshheading:15175914-Retinal Degeneration, pubmed-meshheading:15175914-Visual Acuity, pubmed-meshheading:15175914-Visual Fields
pubmed:articleTitle	Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.
pubmed:affiliation	Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't