Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Due to the genotype–phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype–phenotype correlations...

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Detalles Bibliográficos
Autores principales: Kim, You Na, Song, Joon Seon, Oh, Seak Hee, Kim, Yoon Jeon, Yoon, Young Hee, Seo, Eul-Ju, Seol, Chang Ahn, Lee, Sae-Mi, Choi, Jong-Moon, Seo, Go Hun, Keum, Changwon, Lee, Beom Hee, Lee, Joo Yong
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/PMC7658990/
https://www.ncbi.nlm.nih.gov/pubmed/33177553
http://dx.doi.org/10.1038/s41598-020-75902-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658990/
https://www.ncbi.nlm.nih.gov/pubmed/33177553
http://dx.doi.org/10.1038/s41598-020-75902-z

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