Linked Life Data

16832026

Source:http://linkedlifedata.com/resource/pubmed/id/16832026

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2006-7-11
pubmed:abstractText
To characterize clinical findings associated with a mutation in codon 195 (Arg195Leu) of the peripherin/RDS gene in a large multigeneration family of European decent.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1020-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:16832026-Adolescent, pubmed-meshheading:16832026-Adult, pubmed-meshheading:16832026-Age of Onset, pubmed-meshheading:16832026-Arginine, pubmed-meshheading:16832026-Choroid Diseases, pubmed-meshheading:16832026-Codon, pubmed-meshheading:16832026-DNA Mutational Analysis, pubmed-meshheading:16832026-Disease Progression, pubmed-meshheading:16832026-Electroretinography, pubmed-meshheading:16832026-Female, pubmed-meshheading:16832026-Fluorescein Angiography, pubmed-meshheading:16832026-Genes, Dominant, pubmed-meshheading:16832026-Humans, pubmed-meshheading:16832026-Intermediate Filament Proteins, pubmed-meshheading:16832026-Leucine, pubmed-meshheading:16832026-Male, pubmed-meshheading:16832026-Membrane Glycoproteins, pubmed-meshheading:16832026-Nerve Tissue Proteins, pubmed-meshheading:16832026-Pedigree, pubmed-meshheading:16832026-Point Mutation, pubmed-meshheading:16832026-Visual Acuity
pubmed:year
2006
pubmed:articleTitle
Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
pubmed:affiliation
Department of Ophthalmology, University of Würzburg, Josef-Schneider-Strasse 11, D-97080 Würzburg, Germany. ckeilhauer@yahoo.com
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't