rdf:type |
|
lifeskim:mentions |
umls-concept:C0015392,
umls-concept:C0017601,
umls-concept:C0442533,
umls-concept:C0596611,
umls-concept:C0681850,
umls-concept:C0936012,
umls-concept:C1260957,
umls-concept:C1424774,
umls-concept:C1550501,
umls-concept:C1706203,
umls-concept:C2349001,
umls-concept:C2603343,
umls-concept:C2697811
|
pubmed:issue |
5
|
pubmed:dateCreated |
2004-10-22
|
pubmed:abstractText |
The optineurin (OPTN) gene has been reported to possess both causal as well as risk-associated alleles for open-angle glaucoma. However, these findings have so far only been reported in family and clinic based studies. The aim of this study was to investigate the spectrum of mutations and gene variants in OPTN that might be present in people with glaucoma from a population-based study, the Blue Mountains Eye Study (BMES).
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
1442-6404
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
32
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
518-22
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:15498064-Aged,
pubmed-meshheading:15498064-DNA Mutational Analysis,
pubmed-meshheading:15498064-Female,
pubmed-meshheading:15498064-Glaucoma, Open-Angle,
pubmed-meshheading:15498064-Humans,
pubmed-meshheading:15498064-Intraocular Pressure,
pubmed-meshheading:15498064-Male,
pubmed-meshheading:15498064-Middle Aged,
pubmed-meshheading:15498064-Mutation,
pubmed-meshheading:15498064-New South Wales,
pubmed-meshheading:15498064-Polymerase Chain Reaction,
pubmed-meshheading:15498064-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:15498064-Prevalence,
pubmed-meshheading:15498064-Transcription Factor TFIIIA
|
pubmed:year |
2004
|
pubmed:articleTitle |
Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.
|
pubmed:affiliation |
Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia. pnb@unimelb.edu.au
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|