Linked Life Data

9831753

Source:http://linkedlifedata.com/resource/pubmed/id/9831753

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
1999-1-22
pubmed:abstractText
Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies. To date over 60 different mutations have been reported in human retinal diseases, with most being restricted to single families. A characteristic of mutations in the peripherin/RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Thus, genotype-phenotype correlations are difficult and only reliable for a minority of mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0001-5180
pubmed:author
pubmed:issnType
Print
pubmed:volume
162
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
75-84
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
The role of the peripherin/RDS gene in retinal dystrophies.
pubmed:affiliation
Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Deutschland.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't