9052636

Source:http://linkedlifedata.com/resource/pubmed/id/9052636

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0070435, umls-concept:C0330095, umls-concept:C1421210, umls-concept:C1704638, umls-concept:C2350017
pubmed:issue	2
pubmed:dateCreated	1997-3-18
pubmed:abstractText	To evaluate the clinical and electrophysiologic findings in a family with two heterozygous sequence changes in the peripherin-retinal degeneration slow (RDS) gene.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01 EY10539
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7802443
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, 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/Phenylalanine, http://linkedlifedata.com/resource/pubmed/chemical/Serine, http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	0161-6420
pubmed:author	pubmed-author:AlexanderK RKR, pubmed-author:ButlerN SNS, pubmed-author:DerlackiD JDJ, pubmed-author:FishmanG AGA, pubmed-author:GilbertL DLD, pubmed-author:StoneE MEM
pubmed:issnType	Print
pubmed:volume	104
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	299-306
pubmed:dateRevised	2008-11-21
pubmed:meshHeading	pubmed-meshheading:9052636-Adult, pubmed-meshheading:9052636-Aged, pubmed-meshheading:9052636-DNA, pubmed-meshheading:9052636-Electrophoresis, Agar Gel, pubmed-meshheading:9052636-Electroretinography, pubmed-meshheading:9052636-Eye Proteins, pubmed-meshheading:9052636-Fundus Oculi, pubmed-meshheading:9052636-Humans, pubmed-meshheading:9052636-Intermediate Filament Proteins, pubmed-meshheading:9052636-Male, pubmed-meshheading:9052636-Membrane Glycoproteins, pubmed-meshheading:9052636-Nerve Tissue Proteins, pubmed-meshheading:9052636-Pedigree, pubmed-meshheading:9052636-Phenylalanine, pubmed-meshheading:9052636-Point Mutation, pubmed-meshheading:9052636-Polymerase Chain Reaction, pubmed-meshheading:9052636-Retinal Cone Photoreceptor Cells, pubmed-meshheading:9052636-Retinal Degeneration, pubmed-meshheading:9052636-Sequence Analysis, pubmed-meshheading:9052636-Serine, pubmed-meshheading:9052636-Visual Fields
pubmed:year	1997
pubmed:articleTitle	Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
pubmed:affiliation	Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago College of Medicine 60612, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't