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

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 comprehensive mole...

Descripción completa

Detalles Bibliográficos
Autores principales: Ma, Dae Joong, Lee, Hyun-Seob, Kim, Kwangsoo, Choi, Seongmin, Jang, Insoon, Cho, Seo-Ho, Yoon, Chang Ki, Lee, Eun Kyoung, Yu, Hyeong Gon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945660/
https://www.ncbi.nlm.nih.gov/pubmed/33691693
http://dx.doi.org/10.1186/s12920-021-00874-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945660/
https://www.ncbi.nlm.nih.gov/pubmed/33691693
http://dx.doi.org/10.1186/s12920-021-00874-6

Ejemplares similares