Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients...

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Detalles Bibliográficos
Autores principales: Kobal, Nina, Krašovec, Tjaša, Šuštar, Maja, Volk, Marija, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924842/
https://www.ncbi.nlm.nih.gov/pubmed/33669941
http://dx.doi.org/10.3390/ijms22042133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924842/
https://www.ncbi.nlm.nih.gov/pubmed/33669941
http://dx.doi.org/10.3390/ijms22042133

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