Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model

Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In an Indian family suffering from retinitis pigmentosa, we identified a missense variation in CNGA1 affecting the cy...

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Detalles Bibliográficos
Autores principales: Kandaswamy, Surabhi, Zobel, Lena, John, Bina, Santhiya, Sathiyavedu Thyagarajan, Bogedein, Jacqueline, Przemeck, Gerhard K. H., Gailus-Durner, Valérie, Fuchs, Helmut, Biel, Martin, de Angelis, Martin Hrabĕ, Graw, Jochen, Michalakis, Stylianos, Amarie, Oana Veronica
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/PMC9482621/
https://www.ncbi.nlm.nih.gov/pubmed/36115851
http://dx.doi.org/10.1038/s41420-022-01185-0

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