논문KCI 등재
Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient
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참고문헌 (5)
- Zeitz C, "Molecular genetics and protein function involved in nocturnal vision", Expert Rev Ophthalmol, 2, pp.467~485 (2007)
- Zeitz C, "Congenital stationary night blindness : an analysis and update of genotype-phenotype correlations and pathogenic mechanisms", Prog Retin Eye Res, 45, pp.58~110 (2015)
- Miraldi Utz V, "Presentation of TRPM1-associated congenital stationary night blindness in children", JAMA Ophthalmol, 136, pp.389~398 (2018)
- 김민석, "Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases", Journal of Korean Medical Science, 34(21), pp.1~11 (2019), 대한의학회
- Zeitz C, "Genotyping microarray for CSNB-associated genes", Invest Ophthalmol Vis Sci, 50, pp.5919~5926 (2009)
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