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The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis

Cyclic nucleotide-gated channel β 1 (CNGB1) encodes a subunit of the rod cyclic nucleotide-gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal recessive retinitis pigmentosa (RP). Several treatment strategies show promise for treating inherited retinal degenerations, howe...

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Detalles Bibliográficos
Autores principales: Jackson, Daniel J., Dubis, Adam M., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245601/
https://www.ncbi.nlm.nih.gov/pubmed/35743231
http://dx.doi.org/10.3390/ijms23126785