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dc.contributor.authorBaird, PN
dc.contributor.authorRichardson, AJ
dc.contributor.authorCraig, JE
dc.contributor.authorRochtchina, E
dc.contributor.authorMackey, DA
dc.contributor.authorMitchell, P
dc.date.available2014-05-22T08:59:36Z
dc.date.available2004-11-29
dc.date.available2004-11-29
dc.date.available2004-11-29
dc.date.available2004-11-29
dc.date.available2004-11-29
dc.date.issued2005-06-01
dc.date.submitted2006-09-27
dc.identifierpii: S0002-9394(04)01460-6
dc.identifier.citationBaird, P. N., Richardson, A. J., Craig, J. E., Rochtchina, E., Mackey, D. A. & Mitchell, P. (2005). The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study. AMERICAN JOURNAL OF OPHTHALMOLOGY, 139 (6), pp.1125-1126. https://doi.org/10.1016/j.ajo.2004.11.061.
dc.identifier.issn0002-9394
dc.identifier.urihttp://hdl.handle.net/11343/33414
dc.descriptionCopyright confirmation in progress. Any queries to UMER- enquiries@unimelb.edu.au
dc.description.abstractPURPOSE: To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES). DESIGN: Population-based study. METHODS: DNA was extracted from 2,142 individuals collected through the BMES, including 31 individuals with glaucoma. All individuals were screened for the presence of the Q368STOP mutation of myocilin. Genotyping of the microsatellite markers My5, My3, D1S2815, and D1S1619 was also undertaken. RESULTS: None of the 31 open-angle glaucoma-positive individuals presented with the Q368STOP mutation. However, two individuals (aged 56 and 72) with no clinical signs of OAG, were identified with this mutation. Allele sharing at the four microsatellite markers defining the Q368STOP disease haplotype for OAG was found in these two individuals. CONCLUSIONS: The Q368STOP myocilin mutation occurs at a low prevalence (0.09%) in a general, older population.
dc.formatapplication/msword
dc.languageEnglish
dc.publisherELSEVIER SCIENCE INC
dc.relation.isversionofhttp://www.elsevier.com/wps/find/journaldescription.cws_home/601028/description#description
dc.relation.isversionofhttp://tinyurl.com/qv8bz6
dc.subjectCERA
dc.subjectophthalmology
dc.subjectCentre for Eye Research Australia
dc.subjecteye research
dc.subjectvision
dc.subjectvisual health
dc.titleThe Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study
dc.typeJournal Article
dc.identifier.doi10.1016/j.ajo.2004.11.061
melbourne.peerreviewPeer Reviewed
melbourne.affiliation.departmentMedicine, Dentistry and Health Sciences: Centre for Eye Research Australia
melbourne.affiliation.departmentSchool of Medicine: Ophthalmology
melbourne.publication.statusPublished
melbourne.source.titleAMERICAN JOURNAL OF OPHTHALMOLOGY
melbourne.source.volume139
melbourne.source.issue6
melbourne.source.pages1125-1126
melbourne.publicationid38492
melbourne.elementsid269205
melbourne.contributor.authorBaird, Paul
melbourne.contributor.authorCraig, Jamie
melbourne.contributor.authorMackey, David
dc.identifier.eissn1879-1891
melbourne.accessrightsThis item is currently not available from this repository


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