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Congenital Stationary Night Blindness due to Novel Gene Mutations in a Korean Patient.

作者信息

Lee Yun Jeong, Joo Kwangsic, Seong Moon Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Joon

机构信息

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2020 Apr;34(2):170-172. doi: 10.3341/kjo.2019.0080.

DOI:10.3341/kjo.2019.0080
PMID:32233153
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7105792/
Abstract
摘要

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本文引用的文献

1
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.韩国遗传性视网膜疾病患者的基因突变谱。
J Korean Med Sci. 2019 Jun 2;34(21):e161. doi: 10.3346/jkms.2019.34.e161.
2
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.儿童与瞬时受体电位阳离子通道M1相关的先天性静止性夜盲症的表现
JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185.
3
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
先天性静止性夜盲症：基因型-表型相关性和发病机制的分析与更新。
Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13.
4
Genotyping microarray for CSNB-associated genes.用于先天性静止性夜盲症相关基因的基因分型微阵列
Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2.