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Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have analyzed the spectrum of disease within a particular genotype....

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Detalles Bibliográficos
Autores principales: Ballios, Brian G., Place, Emily M., Martinez-Velazquez, Luis, Pierce, Eric A., Comander, Jason I., Huckfeldt, Rachel M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701931/
https://www.ncbi.nlm.nih.gov/pubmed/34946802
http://dx.doi.org/10.3390/genes12121853