A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype

PURPOSE: Close to 100 genes cause retinitis pigmentosa, a Mendelian rare disease that affects 1 out of 4000 people worldwide. Mutations in the ceramide kinase-like gene (CERKL) are a prevalent cause of autosomal recessive cause retinitis pigmentosa and cone–rod dystrophy, but the functional role of...

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Detalles Bibliográficos
Autores principales: Domènech, Elena B., Andrés, Rosa, López-Iniesta, M. José, Mirra, Serena, García-Arroyo, Rocío, Milla, Santiago, Sava, Florentina, Andilla, Jordi, Loza-Álvarez, Pablo, de la Villa, Pedro, Gonzàlez-Duarte, Roser, Marfany, Gemma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425692/
https://www.ncbi.nlm.nih.gov/pubmed/32658961
http://dx.doi.org/10.1167/iovs.61.8.14

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