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Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th...
Autores principales: | Krašovec, Tjaša, Kobal, Nina, Šuštar Habjan, Maja, Volk, Marija, Hawlina, Marko, Fakin, Ana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821079/ https://www.ncbi.nlm.nih.gov/pubmed/36614223 http://dx.doi.org/10.3390/ijms24010780 |
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