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Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-sev...

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Detalles Bibliográficos
Autores principales: Sung, Yu-Chi, Yang, Chang-Hao, Yang, Chung-May, Lin, Chao-Wen, Huang, Ding-Siang, Huang, Yu-Shu, Hu, Fung-Rong, Chen, Pei-Lung, Chen, Ta-Ching
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759801/
https://www.ncbi.nlm.nih.gov/pubmed/33261146
http://dx.doi.org/10.3390/genes11121421