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

页码：494 / 502

页数：9

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