CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

Purpose: 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 he...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Vis
Prif Awduron: Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2015
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://ncbi.nlm.nih.gov/pubmed/25750510
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