Frequency of <i>RPE65</i> Gene Mutation in Patients with Hereditary Retinal Dystrophy

Author:

Sinim Kahraman NeslihanORCID,Öner AyşeORCID,Özkul YusufORCID,Dündar MunisORCID

Publisher

Galenos Yayinevi

Subject

Ophthalmology

Reference28 articles.

1. 1. Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A. Early-onset severe rodcone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci. 2000;41:2735-2742.

2. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions;Kumaran;Br J Ophthalmol,2017

3. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation;Lorenz;Invest Ophthalmol Vis Sci,2008

4. 4. Sevik MO, Şahin Ö. Leber Konjenital Amorozisi. Güncel Retina 2021;5:173-184.

5. Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies;Öner;Turk J Ophthalmol,2017

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