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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members un...

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Detalles Bibliográficos
Autores principales: Kim, Yoon-Jeon, Kim, You-Na, Yoon, Young-Hee, Seo, Eul-Ju, Seo, Go-Hun, Keum, Changwon, Lee, Beom-Hee, Lee, Joo-Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146864/
https://www.ncbi.nlm.nih.gov/pubmed/33946315
http://dx.doi.org/10.3390/genes12050675