Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center
Author:
Affiliation:
1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Subject
General Medicine
Reference54 articles.
1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat Genet,1997
2. Analysis of the ABCA4 genomic locus in Stargardt disease;Zernant;Hum Mol Genet,2014
3. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease;Nasonkin;Hum Genet,1998
4. In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases;Cornelis;Hum Mutat,2017
5. Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom;Pontikos;Ophthalmology,2020
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