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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...
Autores principales: | Kobal, Nina, Krašovec, Tjaša, Šuštar, Maja, Volk, Marija, Peterlin, Borut, Hawlina, Marko, Fakin, Ana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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