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Updating the Genetic Landscape of Inherited Retinal Dystrophies

Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosis very difficult. The recent advent of next genera...

詳細記述

保存先:
書誌詳細
出版年:Front Cell Dev Biol
主要な著者: García Bohórquez, Belén, Aller, Elena, Rodríguez Muñoz, Ana, Jaijo, Teresa, García García, Gema, Millán, José M.
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8315279/
https://ncbi.nlm.nih.gov/pubmed/34327195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.645600
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