Cargando…
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...
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 |
Ejemplares similares
-
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
por: Chen, Xiaoming, et al.
Publicado: (2009) -
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability
por: Campos-Mollo, Ezequiel, et al.
Publicado: (2009) -
Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog
por: Park, Shin Ae, et al.
Publicado: (2019) -
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
por: Morales-Cámara, Samuel, et al.
Publicado: (2020) -
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma
por: Medina-Trillo, Cristina, et al.
Publicado: (2019)