Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa-Reference-Cited by-同舟云学术

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Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa

Published:2018 Issue:2 Volume:8 Page:66
ISSN:2093-6338
Container-title:Laboratory Medicine Online
language:en
Short-container-title:Lab Med Online

Author:

Kim Hyoung-Tae¹,Jang Ja Hyun²,Kang Kyungeun³,Ki Chang-Seok¹,Chung Hyewon³

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2. Green Cross Genome, Yongin, Korea.

3. Department of Ophthalmology, Konkuk University School of Medicine, Konkuk University Medical Center, Seoul, Korea.

Publisher

Laboratory Medicine Online

Subject

Industrial and Manufacturing Engineering

Link

https://synapse.koreamed.org/pdf/10.3343/lmo.2018.8.2.66

Reference13 articles.

1. Retinitis pigmentosa

2. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

3. High Prevalence of Mutations in theEYSGene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

4. Retinitis Pigmentosa withEYSMutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

5. Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases;Journal of Korean Medical Science;2019

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