A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus that are not optimal for studying human dysferli...

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Detalles Bibliográficos
Autores principales: Ballouhey, Océane, Chapoton, Marie, Alary, Benedicte, Courrier, Sébastien, Da Silva, Nathalie, Krahn, Martin, Lévy, Nicolas, Weisleder, Noah, Bartoli, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216094/
https://www.ncbi.nlm.nih.gov/pubmed/37239109
http://dx.doi.org/10.3390/biomedicines11051438

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