7754251

Source:http://linkedlifedata.com/resource/pubmed/id/7754251

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0035334, umls-concept:C0070435, umls-concept:C0449774, umls-concept:C1314792, umls-concept:C1421210
pubmed:issue	1
pubmed:dateCreated	1995-6-22
pubmed:abstractText	To describe the clinical and molecular genetic findings in members of a family with features of autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8309919
pubmed:citationSubset	IM
pubmed:chemical	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/Neuropeptides, http://linkedlifedata.com/resource/pubmed/chemical/Proline, http://linkedlifedata.com/resource/pubmed/chemical/Serine, http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status	MEDLINE
pubmed:issn	0275-004X
pubmed:author	pubmed-author:CreelD JDJ, pubmed-author:RichardsS CSC
pubmed:issnType	Print
pubmed:volume	15
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	68-72
pubmed:dateRevised	2006-12-15
pubmed:meshHeading	pubmed-meshheading:7754251-Adult, pubmed-meshheading:7754251-Aged, pubmed-meshheading:7754251-Chromosome Aberrations, pubmed-meshheading:7754251-Chromosome Disorders, pubmed-meshheading:7754251-Chromosomes, Human, Pair 6, pubmed-meshheading:7754251-Eye Proteins, pubmed-meshheading:7754251-Humans, pubmed-meshheading:7754251-Intermediate Filament Proteins, pubmed-meshheading:7754251-Male, pubmed-meshheading:7754251-Membrane Glycoproteins, pubmed-meshheading:7754251-Middle Aged, pubmed-meshheading:7754251-Mutation, pubmed-meshheading:7754251-Nerve Tissue Proteins, pubmed-meshheading:7754251-Neuropeptides, pubmed-meshheading:7754251-Pedigree, pubmed-meshheading:7754251-Proline, pubmed-meshheading:7754251-Retina, pubmed-meshheading:7754251-Retinal Degeneration, pubmed-meshheading:7754251-Retinitis Pigmentosa, pubmed-meshheading:7754251-Serine
pubmed:year	1995
pubmed:articleTitle	Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
pubmed:affiliation	Ophthalmology Associates, Ogden, Utah, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Case Reports