Linked Life Data

16340530

Source:http://linkedlifedata.com/resource/pubmed/id/16340530

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2005-12-12
pubmed:abstractText
To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0275-004X
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
999-1004
pubmed:dateRevised
2006-12-15
pubmed:meshHeading
pubmed-meshheading:16340530-Adult, pubmed-meshheading:16340530-Age of Onset, pubmed-meshheading:16340530-Aged, pubmed-meshheading:16340530-DNA Mutational Analysis, pubmed-meshheading:16340530-Female, pubmed-meshheading:16340530-Fluorescein Angiography, pubmed-meshheading:16340530-Genes, Dominant, pubmed-meshheading:16340530-Humans, pubmed-meshheading:16340530-Intermediate Filament Proteins, pubmed-meshheading:16340530-Membrane Glycoproteins, pubmed-meshheading:16340530-Middle Aged, pubmed-meshheading:16340530-Nerve Tissue Proteins, pubmed-meshheading:16340530-Pedigree, pubmed-meshheading:16340530-Point Mutation, pubmed-meshheading:16340530-Polymerase Chain Reaction, pubmed-meshheading:16340530-RNA Splice Sites, pubmed-meshheading:16340530-Retinal Degeneration, pubmed-meshheading:16340530-Visual Acuity
pubmed:year
2005
pubmed:articleTitle
Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.
pubmed:affiliation
Henry and Corinne Bower Laboratory, the Eye Research Institute, the International Retinal Research Foundation, and Wills Eye Hospital, Philadelphia, PA 19107, USA.
pubmed:publicationType
Journal Article, Case Reports