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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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7425692/
https://ncbi.nlm.nih.gov/pubmed/32658961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.8.14
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