Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

You Na KimYoon Jeon KimChang Ahn SeolEul-Ju SeoJoo Yong LeeYoung Hee Yoon

Published in: Journal of ophthalmology (2021)

In conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. Delineating clinical characteristics according to genetic variations may help clinicians identify subtype features and predict the clinical course of RP.

Keyphrases

genome wide
end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
palliative care
dna methylation
healthcare
gene expression
drug delivery
patient reported outcomes