Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

BACKGROUND: The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retinal disease. Identifying patients with RPE65 mutations is a...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Gao, Feng-Juan, Wang, Dan-Dan, Li, Jian-Kang, Hu, Fang-Yuan, Xu, Ping, Chen, Fang, Qi, Yu-He, Liu, Wei, Li, Wei, Zhang, Sheng-Hai, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8097799/
https://ncbi.nlm.nih.gov/pubmed/33952291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01807-3
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