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Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma

Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trab...

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Detalles Bibliográficos
Autores principales: García-Antón, María T., Salazar, Juan J., de Hoz, Rosa, Rojas, Blanca, Ramírez, Ana I., Triviño, Alberto, Aroca-Aguilar, José-Daniel, García-Feijoo, Julián, Escribano, Julio, Ramírez, José M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407778/
https://www.ncbi.nlm.nih.gov/pubmed/28448622
http://dx.doi.org/10.1371/journal.pone.0176386