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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://www.ncbi.nlm.nih.gov/pubmed/25750510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333725/
https://www.ncbi.nlm.nih.gov/pubmed/25750510

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