Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate “Diseased” Hepatocytes for Accurate Diagnosis

The diagnosis of inherited metabolic disorders is a long and tedious process. The matching of clinical data with a genomic variant in a specific metabolic pathway is an essential step, but the link between a genome and the clinical data is normally difficult, primarily for new missense variants or a...

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Detalles Bibliográficos
Autores principales: Garcia-Llorens, Guillem, Lopez-Navarro, Sergi, Jaijo, Teresa, Castell, Jose V., Bort, Roque
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322025/
https://www.ncbi.nlm.nih.gov/pubmed/35887608
http://dx.doi.org/10.3390/jpm12071111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322025/
https://www.ncbi.nlm.nih.gov/pubmed/35887608
http://dx.doi.org/10.3390/jpm12071111

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