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.
Abstract
摘要
Zotero 插件