Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Abstract Background To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES. Methods We performed comprehensi...

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主要な著者:	Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2021-03-01
シリーズ:	BMC Medical Genomics
主題:	Whole-exome sequencing Inherited retinal degeneration Retinitis pigmentosa
オンライン･アクセス:	https://doi.org/10.1186/s12920-021-00874-6
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