Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype
Author:
Affiliation:
1. Chair and Department of General and Pediatric Ophthalmology, Medical University of Lublin, 20-059 Lublin, Poland
2. Department of Forensic Medicine, Medical University of Lublin, 20-059 Lublin, Poland
Abstract
Funder
Medical University of Lublin, Poland
Publisher
MDPI AG
Subject
Genetics (clinical),Genetics
Link
https://www.mdpi.com/2073-4425/14/10/1950/pdf
Reference33 articles.
1. Retinitis pigmentosa;Hartong;Lancet,2006
2. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC);Sharon;Hum. Mutat.,2020
3. Daiger, S.P. (2022, October 07). RetNet. The Retinal Information Network. The University of Texas Health Science Center at Houston. Available online: https://web.sph.uth.edu/RetNet/.
4. Female carriers of X-linked inherited retinal diseases—Genetics, diagnosis, and potential therapies;Gocuk;Prog. Retin. Eye Res.,2023
5. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa;Vervoort;Nat. Genet.,2000
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