12359607

Source:http://linkedlifedata.com/resource/pubmed/id/12359607

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0035334, umls-concept:C0205314, umls-concept:C0596142, umls-concept:C0679622, umls-concept:C1314792, umls-concept:C1413723, umls-concept:C2348519
pubmed:issue	10
pubmed:dateCreated	2002-10-2
pubmed:abstractText	To reexamine a large Albertan family previously reported with a progressive cone dystrophy with variable phenotype and to map the disorder using molecular genetic techniques.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7802443
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Rhodopsin, http://linkedlifedata.com/resource/pubmed/chemical/Trans-Activators, http://linkedlifedata.com/resource/pubmed/chemical/cone rod homeobox protein
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	0161-6420
pubmed:author	pubmed-author:FlynnSarah JSJ, pubmed-author:HébertMarcM, pubmed-author:LinesMatthew AMA, pubmed-author:MacDonaldIan MIM, pubmed-author:McTaggartKerry EKE, pubmed-author:TennantMatthew TMT
pubmed:issnType	Print
pubmed:volume	109
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1862-70
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:12359607-Adolescent, pubmed-meshheading:12359607-Adult, pubmed-meshheading:12359607-Aged, pubmed-meshheading:12359607-Aged, 80 and over, pubmed-meshheading:12359607-Amino Acid Sequence, pubmed-meshheading:12359607-Chromosome Mapping, pubmed-meshheading:12359607-Color Perception, pubmed-meshheading:12359607-Electroretinography, pubmed-meshheading:12359607-Female, pubmed-meshheading:12359607-Frameshift Mutation, pubmed-meshheading:12359607-Fundus Oculi, pubmed-meshheading:12359607-Genes, Dominant, pubmed-meshheading:12359607-Genetic Linkage, pubmed-meshheading:12359607-Haplotypes, pubmed-meshheading:12359607-Homeodomain Proteins, pubmed-meshheading:12359607-Humans, pubmed-meshheading:12359607-Male, pubmed-meshheading:12359607-Middle Aged, pubmed-meshheading:12359607-Molecular Sequence Data, pubmed-meshheading:12359607-Pedigree, pubmed-meshheading:12359607-Phenotype, pubmed-meshheading:12359607-Retinal Cone Photoreceptor Cells, pubmed-meshheading:12359607-Retinal Rod Photoreceptor Cells, pubmed-meshheading:12359607-Retinitis Pigmentosa, pubmed-meshheading:12359607-Rhodopsin, pubmed-meshheading:12359607-Trans-Activators, pubmed-meshheading:12359607-Visual Acuity
pubmed:year	2002
pubmed:articleTitle	Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
pubmed:affiliation	Department of Ophthalmology, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't