Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

被引：29
|
作者：
Jurkute, Neringa [1 ]
Majander, Anna [2 ]
Bowman, Richard [3 ]
Votruba, Marcela [4 ,5 ]
Abbs, Stephen [6 ]
Acheson, James [7 ]
Lenaers, Guy [8 ]
Amati-Bonneau, Patrizia [8 ,9 ]
Moosajee, Mariya [3 ,7 ,10 ]
Arno, Gavin [7 ,10 ]
Yu-Wai-Man, Patrick [1 ,11 ,12 ,13 ,14 ]
机构：
[1] UCL Inst Ophthalmol, Moorfields Eye Hosp, NIHR Biomed Res Ctr, London, England
[2] Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Helsinki, Finland
[3] Great Ormond St Hosp Children NHS Fdn Trust, Dept Ophthalmol, London, England
[4] Cardiff Univ, Sch Optometry & Vis Sci, Cardiff, S Glam, Wales
[5] Univ Hosp Wales, Cardiff Eye Unit, Cardiff, S Glam, Wales
[6] Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England
[7] Moorfields Eye Hosp NHS Fdn Trust, London, England
[8] Univ Angers, CHU Angers, INSERM,CNRS,U1083,UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France
[9] CHU Angers, INSERM, U1083, Dept Biochem & Genet,UMR 6015, Angers, France
[10] UCL, Inst Ophthalmol, London, England
[11] Royal Victoria Infirm, Newcastle Eye Ctr, Newcastle Upon Tyne, Tyne & Wear, England
[12] Cambridge Univ Hosp, Addenbrookes Hosp, Cambridge Eye Unit, Cambridge, England
[13] Univ Cambridge, Dept Clin Neurosci, Cambridge Ctr Brain Repair, Cambridge, England
[14] Univ Cambridge, Dept Clin Neurosci, MRC Mitochondrial Biol Unit, Cambridge, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷 / 03期
基金：
英国惠康基金; 英国医学研究理事会;
关键词：
MUTATIONS; ATROPHY; ACCURATE; LAYER;
D O I：
10.1038/s41431-018-0235-y
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
[No abstract available]
引用
收藏
页码：494 / 502
页数：9
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