Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

PURPOSE: Pathogenic variants in FAM161A are the most common cause of retinitis pigmentosa in Israel. Two founder pathogenic variants explain the vast majority of cases of Jewish origin, 1 being a nonsense variant (p.Arg523∗). The aim of this study was to generate a knock-in (KI) mouse model harborin...

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Detalles Bibliográficos
Autores principales: Matsevich, Chen, Gopalakrishnan, Prakadeeswari, Obolensky, Alexey, Banin, Eyal, Sharon, Dror, Beryozkin, Avigail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676433/
https://www.ncbi.nlm.nih.gov/pubmed/36420180
http://dx.doi.org/10.1016/j.xops.2022.100229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676433/
https://www.ncbi.nlm.nih.gov/pubmed/36420180
http://dx.doi.org/10.1016/j.xops.2022.100229

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