Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data
Author:
Funder
Seoul National University Bundang Hospital
Ministry of Science and ICT, South Korea
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s00417-023-06309-5.pdf
Reference37 articles.
1. Sahel J-A, Marazova K, Audo I (2014) Clinical characteristics and current therapies for inherited retinal degenerations. Cold Spring Harb Perspect Med 5:a017111
2. Georgiou M, Fujinami K, Michaelides M (2021) Inherited retinal diseases: therapeutics, clinical trials and end points-a review. Clin Experiment Ophthalmol 49:270–288
3. Vázquez-Domínguez I, Garanto A, Collin RWJ (2019) Molecular therapies for inherited retinal diseases-current standing, opportunities and challenges. Genes 10. https://doi.org/10.3390/genes10090654
4. Bessant DA, Ali RR, Bhattacharya SS (2001) Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11:307–316
5. Sohocki MM, Daiger SP, Bowne SJ et al (2001) Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17:42–51
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