A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant

Retinitis pigmentosa (RP) is a heterogenous hereditary disorder leading to blindness. Despite using next-generation sequencing technologies, causal variants in about 60% of RP cases remain unknown. The heterogeneous genetic inheritance pattern makes it difficult to pinpoint causal variants. Besides,...

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Detalles Bibliográficos
Autores principales: Saito, Kohei, Gotoh, Norimoto, Kang, Inyeop, Shimada, Toshio, Usui, Takeshi, Terao, Chikashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907121/
https://www.ncbi.nlm.nih.gov/pubmed/33633220
http://dx.doi.org/10.1038/s41598-021-84098-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907121/
https://www.ncbi.nlm.nih.gov/pubmed/33633220
http://dx.doi.org/10.1038/s41598-021-84098-9

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