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

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

Abstract 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 affecti...

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Main Authors: Surabhi Kandaswamy, Lena Zobel, Bina John, Sathiyavedu Thyagarajan Santhiya, Jacqueline Bogedein, Gerhard K. H. Przemeck, Valérie Gailus-Durner, Helmut Fuchs, Martin Biel, Martin Hrabĕ de Angelis, Jochen Graw, Stylianos Michalakis, Oana Veronica Amarie
Format: Article
Language:English
Published: Nature Publishing Group 2022-09-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-022-01185-0

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https://doi.org/10.1038/s41420-022-01185-0

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