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dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorHayes, Melanie
dc.contributor.authorRuddle, Jonathan B
dc.contributor.authorElder, James E
dc.contributor.authorStaffieri, Sandra E
dc.contributor.authorKearns, Lisa S
dc.contributor.authorMackey, David A
dc.contributor.authorZhou, Tiger
dc.contributor.authorRidge, Bronwyn
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorDubowsky, Andrew
dc.contributor.authorCraig, Jamie E
dc.date.accessioned2016-01-28T03:04:44Z
dc.date.available2016-01-28T03:04:44Z
dc.date.issued2015-02-11
dc.identifier.citationSouzeau E, Hayes M, Ruddle JB, Elder JE, Staffieri SE, Kearns LS, Mackey DA, Zhou T, Ridge B, Burdon KP, Dubowsky A, Craig JE. (2015) CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. Molecular Vision. 21: 160-4.en
dc.identifier.issn1090-0535
dc.identifier.urihttp://www.molvis.org/molvis/v21/160
dc.identifier.urihttp://hdl.handle.net/2328/35898
dc.descriptionThis article is published under a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms). The authors retain copyright and grant Molecular Vision an irrevocable, royalty-free, perpetual license to publish and distribute the article, in all formats now known or later developed, and to identify Molecular Vision as the original publisher.en
dc.description.abstractPurpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma. Methods: In total, 50 PCG cases either heterozygous for disease-causing variants or with no CYP1B1 sequence variants were included in the study. CYP1B1 CNV was analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA). Results: No deletions or duplications were found in any of the cases. Conclusion: This is the first study to report on CYP1B1 CNV in PCG cases. Our findings show that this mechanism is not a major contributor to the phenotype and is of limited diagnostic utility.en
dc.language.isoen
dc.publisherMolecular Visionen
dc.relationhttp://purl.org/au-research/grants/nhmrc/1023911en
dc.rightsCopyright © 2015 Molecular Visionen
dc.titleCYP1B1 copy number variation is not a major contributor to primary congenital glaucomaen
dc.typeArticleen
dc.relation.grantnumberNHMRC/1023911en
dc.rights.holderMolecular Visionen
dc.rights.licenseCC-BY-NC-ND


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