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Retinal Phenotyping of a Murine Model of Lafora Disease
Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates termed Lafora bodies (LBs). This study aimed to characterize the retinal phenotype in Epm2a(−/−) mice by examining knockout (K...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137594/ https://www.ncbi.nlm.nih.gov/pubmed/37107612 http://dx.doi.org/10.3390/genes14040854 |