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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Bibliografski detalji
Izdano u:Mol Vis
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2015
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://ncbi.nlm.nih.gov/pubmed/25750510
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