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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...

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Bibliografske podrobnosti
izdano v:Int J Mol Sci
Main Authors: Kobal, Nina, Krašovec, Tjaša, Šuštar, Maja, Volk, Marija, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7924842/
https://ncbi.nlm.nih.gov/pubmed/33669941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22042133
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