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Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases

Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG). We investigated the molecular basis...

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Detalles Bibliográficos
Autores principales: Banerjee, Antara, Chakraborty, Subhadip, Chakraborty, Abhijit, Chakrabarti, Saikat, Ray, Kunal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887111/
https://www.ncbi.nlm.nih.gov/pubmed/27243976
http://dx.doi.org/10.1371/journal.pone.0156252