CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation in people o...

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Detalles Bibliográficos
Autores principales: Kan, Shih-hsin, Huang, Jeffrey Y., Harb, Jerry, Rha, Allisandra, Dalton, Nancy D., Christensen, Chloe, Chan, Yunghang, Davis-Turak, Jeremy, Neumann, Jonathan, Wang, Raymond Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751086/
https://www.ncbi.nlm.nih.gov/pubmed/36517654
http://dx.doi.org/10.1038/s41598-022-25914-8

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