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CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient

Mutations in the GPR143 gene cause X-linked ocular albinism type 1 (OA1), a disease that severely impairs vision. We recently generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of an OA1 patient carrying a point mutation in intron 7 of GPR143. This mutation activates a new splice...

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Detalles Bibliográficos
Autores principales: Torriano, Simona, Baulier, Edouard, Garcia Diaz, Alejandro, Corneo, Barbara, Farber, Debora B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233509/
https://www.ncbi.nlm.nih.gov/pubmed/35686978
http://dx.doi.org/10.1089/crispr.2021.0110

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