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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Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7658990/
https://ncbi.nlm.nih.gov/pubmed/33177553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-75902-z
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