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Article

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Genes - 27 Apr 2020

Fuster-García Carla, García-Bohórquez Belén, Rodríguez-Muñoz Ana, Millán José M, García-García Gema

Abstract excerpt

Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide. Besides clinically, these vision loss disorders present a high genetic and allelic heterogeneity. To date, over 250 genes have been associated to retinal dystrophies with reported causative variants of every nature (nonsense, missense, frameshift,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32349249
DOI: 10.3390/genes11050473
PMCID: PMC7290804

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