Autosomal Dominant Central Areolar Choroidal Dystrophy and a Novel Arg195Leu Mutation in the Peripherin/RDS Gene
Author:
Publisher
American Medical Association (AMA)
Subject
Ophthalmology
Cited by 38 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. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14
2. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort;International Journal of Molecular Sciences;2024-03-02
3. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation;Cell Death & Disease;2023-11-01
4. Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones;Cellular and Molecular Life Sciences;2023-07-19
5. A Rare Case of Central Areolar Choroidal Dystrophy;Acta Medica Bulgarica;2022-12-01
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