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A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.

作者信息

Lee Ga-In, Lee Chung, Subramanian Sam, Kim Nayoung K D, Ki Chang-Seok, Park Woong-Yang, Kim Byoung Joon, Kim Sang Jin

机构信息

a Department of Ophthalmology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.

b Samsung Genome Institute , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.

出版信息

Ophthalmic Genet. 2017 Dec;38(6):587-589. doi: 10.1080/13816810.2017.1301965. Epub 2017 Apr 7.

DOI:10.1080/13816810.2017.1301965
PMID:28388261
Abstract
摘要

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JCI Insight. 2024 Jan 9;9(1):e162621. doi: 10.1172/jci.insight.162621.
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Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28.
外节吞噬作用的黎明和黄昏高峰和视觉循环功能需要 Rab28。
FASEB J. 2022 May;36(5):e22309. doi: 10.1096/fj.202101897R.
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The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.墨西哥队列中遗传性视网膜疾病的遗传景观：基因、突变和表型。
Genes (Basel). 2021 Nov 19;12(11):1824. doi: 10.3390/genes12111824.
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