A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis
Author:
Affiliation:
1. IRO – Institute for Research in Ophthalmology, Sion, Switzerland
2. Department of Ophthalmology, Cairo University, Cairo, Egypt
Publisher
Georg Thieme Verlag KG
Subject
Ophthalmology
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-111815.pdf
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort;Journal of Ophthalmology;2021-11-09
2. Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients;Frontiers in Cell and Developmental Biology;2021-10-14
3. Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15;Genes;2021-03-29
4. Leber Congenital Amaurosis in Asia;Essentials in Ophthalmology;2018-11-04
5. The ciliary protein Rpgrip1l in development and disease;Developmental Biology;2018-10
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