Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
Author:
Affiliation:
1. Department of Biomedical Informatics, Hanyang University, Seoul, Korea
2. Oneomics Co, Ltd, Gyeonggi-do, Korea
3. Elite Eye Hospital, Seoul, Korea
Funder
National Research Foundation
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2138456
Reference38 articles.
1. Retinitis pigmentosa
2. USH2A-retinopathy: From genetics to therapeutics
3. Stephen H, Tsang M, Kyle Wolpert BA. The genetics of retinitis pigmentosa - knowing how the varieties of RP are transmitted can be half the battle of treatment. accessed 2010 Nov 1. https://www.retinalphysician.com/issues/2010/nov-dec/the-genetics-of-retinitis-pigmentosa.
4. Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
5. Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
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