Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1996-2-16
pubmed:databankReference
pubmed:abstractText
To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. Because clinical heterogeneity was observed in this family, with some members affected with retinitis punctata albescens and one member affected with features typical of retinitis pigmentosa, we analyzed the apolipoprotein E gene to elucidate this unusual intrafamilial heterogeneity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoproteins E, http://linkedlifedata.com/resource/pubmed/chemical/Arginine, 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/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/ROM1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Rhodopsin, http://linkedlifedata.com/resource/pubmed/chemical/Tetraspanins, http://linkedlifedata.com/resource/pubmed/chemical/Tryptophan, http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0002-9394
pubmed:author
pubmed:issnType
Print
pubmed:volume
121
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
19-25
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:8554077-Adolescent, pubmed-meshheading:8554077-Adult, pubmed-meshheading:8554077-Amino Acid Sequence, pubmed-meshheading:8554077-Apolipoproteins E, pubmed-meshheading:8554077-Arginine, pubmed-meshheading:8554077-Base Sequence, pubmed-meshheading:8554077-DNA, pubmed-meshheading:8554077-Eye Proteins, pubmed-meshheading:8554077-Female, pubmed-meshheading:8554077-Fundus Oculi, pubmed-meshheading:8554077-Humans, pubmed-meshheading:8554077-Infant, pubmed-meshheading:8554077-Intermediate Filament Proteins, pubmed-meshheading:8554077-Male, pubmed-meshheading:8554077-Membrane Glycoproteins, pubmed-meshheading:8554077-Membrane Proteins, pubmed-meshheading:8554077-Molecular Sequence Data, pubmed-meshheading:8554077-Mutation, pubmed-meshheading:8554077-Nerve Tissue Proteins, pubmed-meshheading:8554077-Pedigree, pubmed-meshheading:8554077-Polymerase Chain Reaction, pubmed-meshheading:8554077-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:8554077-Retinal Degeneration, pubmed-meshheading:8554077-Retinitis Pigmentosa, pubmed-meshheading:8554077-Rhodopsin, pubmed-meshheading:8554077-Rod Cell Outer Segment, pubmed-meshheading:8554077-Tetraspanins, pubmed-meshheading:8554077-Tryptophan
pubmed:year
1996
pubmed:articleTitle
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
pubmed:affiliation
Genetics Laboratory INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't