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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Detaylı Bibliyografya
Yayımlandı:Mol Vis
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Molecular Vision 2015
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://ncbi.nlm.nih.gov/pubmed/25750510
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