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...

詳細記述

保存先:
書誌詳細
出版年:Mol Vis
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2015
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://ncbi.nlm.nih.gov/pubmed/25750510
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