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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...

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Detalles Bibliográficos
Autores principales: Vincent, Ajoy, Ahmed, Kashif, Hussein, Rowaida, Berberovic, Zorana, Tumber, Anupreet, Zhao, Xiaochu, Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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