Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

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作者： Benjamin,Mc Clinton ^[1] ; Zelia,Corradi ^[2] ; Martin,McKibbin ^[3] ; Daan M,Panneman ^[2] ; Susanne,Roosing ^[2] ; Erica G M,Boonen ^[2] ; Manir,Ali ^[1] ; Christopher M,Watson ^[4] ; David H,Steel ^[5] ; Frans P M,Cremers ^[2] ; Chris F,Inglehearn ^[1] ; Rebekkah J,Hitti-Malin ^[2] ; Carmel,Toomes ^[1]

作者单位： Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK. ^[1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.;Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. ^[2] Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.;Department of Ophthalmology, St. James's University Hospital, Leeds LS9 7TF, UK. ^[3] Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.;North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds LS9 7TF, UK. ^[4] Sunderland Eye Infirmary, Sunderland SR2 9HP, UK.;The Bioscience Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. ^[5]

关键词 ABCA4 NGS Stargardt inherited retinal diseases maculopathies smMIPs

主题词人类(Humans);黄斑变性(Macular Degeneration);等位基因(Alleles);视网膜营养不良(Retinal Dystrophies);ATP结合匣式转运子(ATP-Binding Cassette Transporters)

DOI 10.3390/genes14010191

PMID 36672932

发布时间 2024-09-11

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