A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

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作者： Stefania,Zampatti ^[1] ; Cristina,Peconi ^[1] ; Giulia,Calvino ^[1] ; Rosangela,Ferese ^[2] ; Stefano,Gambardella ^[2] ; Raffaella,Cascella ^[3] ; Jacopo,Sebastiani ^[1] ; Benedetto,Falsini ^[4] ; Andrea,Cusumano ^[5] ; Emiliano,Giardina ^[5]

作者单位： Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy. ^[1] Neuromed IRCSS, 86077 Pozzilli, Italy. ^[2] Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy. ^[3] Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, 1000 Tirana, Albania. ^[4] Macula & Genoma Foundation, 00133 Rome, Italy. ^[5] Department of Ophthalmology, Policlinico A. Gemelli, IRCCS/Catholic University, 00133 Rome, Italy. ^[6] Macula & Genoma Foundation USA, New York, NY 10017, USA. ^[7] Department of Ophthalmology, Tor Vergata University, 00133 Rome, Italy. ^[8] Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy. ^[9]

关键词 RDH8 Stargardt disease all-trans-retinol dehydrogenase macular dystrophy retinal disease

主题词人类(Humans);动物(Animals);小鼠(Mice);RNA剪接(RNA Splicing);算法(Algorithms);生物学鉴定法(Biological Assay);数据库, 事实型(Databases, Factual)

DOI 10.3390/genes14081659

PMID 37628710

发布时间 2023-08-28

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