Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

被引：0
|
作者：
Corradi, Zelia [1 ,2 ]
Khan, Mubeen [3 ]
Mishra, Ketan [1 ,2 ]
Whelan, Laura [4 ]
Hitti-Malin, Rebekkah [1 ,2 ]
Cornelis, Stephanie [1 ,2 ]
Dhaenens, Claire-Marie [1 ,5 ]
Farrar, G. Jane [4 ]
Sharon, Dror [6 ]
Cremers, Frans P. M. [1 ,2 ]
机构：
[1] Radboud Univ Nijmegen, Dept Human Genet, Nijmegen, Gelderland, Netherlands
[2] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Gelderland, Netherlands
[3] Univ Med Ctr Groningen, Dept Pathol & Med Biol, Groningen, Netherlands
[4] Univ Dublin, Trinity Coll, Sch Genet & Microbiol, Dublin, Ireland
[5] CHU Lille, LiINCog Lille Neurosci & Cognit, Lille, Hauts De France, France
[6] Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2021年 / 62卷 / 08期
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D O I：
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中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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页数：3
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