Retinitis Pigmentosa Due to Rp1 Biallelic Variants

In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and included in the study. They had classic retinitis pigmentosa with dia...

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Detalles Bibliográficos
Autores principales: Silva, Rita Sousa, Salles, Mariana Vallim, Motta, Fabiana Louise, Sallum, Juliana Maria Ferraz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994576/
https://www.ncbi.nlm.nih.gov/pubmed/32005865
http://dx.doi.org/10.1038/s41598-020-58243-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994576/
https://www.ncbi.nlm.nih.gov/pubmed/32005865
http://dx.doi.org/10.1038/s41598-020-58243-9

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