Abnormal retinal development associated with FRMD7 mutations.-论文-万方医学网

作者： Mervyn G,Thomas ^[1] ; Moira,Crosier ^[2] ; Susan,Lindsay ^[2] ; Anil,Kumar ^[3] ; Masasuke,Araki ^[4] ; Bart P,Leroy ^[5] ; Rebecca J,McLean ^[3] ; Viral,Sheth ^[3] ; Gail,Maconachie ^[3] ; Shery,Thomas ^[6] ; Anthony T,Moore ^[7] ; Irene,Gottlob ^[1]

作者单位： Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK mgt14@le.ac.uk ig15@le.ac.uk. ^[1] MRC-Wellcome Trust Human Developmental Biology Resource (Newcastle), Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK. ^[2] Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK. ^[3] Department of Biological Sciences, Developmental Neurobiology Laboratory, Nara Women's University, Nara 630-8506, Japan. ^[4] Department of Ophthalmology and Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium. ^[5] Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK Department of Ophthalmology, Nottingham University Hospital NHS Trust, Nottingham, UK. ^[6] UCL Institute of Ophthalmology, London EC1V 9EL, UK. ^[7]

主题词青少年(Adolescent);成年人(Adult);老年人(Aged);病例对照研究(Case-Control Studies);儿童(Child);细胞支架蛋白质类(Cytoskeletal Proteins);胚胎, 哺乳动物(Embryo, Mammalian);女(雌)性(Female);胎儿(Fetus);基因表达调控, 发育期(Gene Expression Regulation, Developmental);人类(Humans);原位杂交(In Situ Hybridization);男(雄)性(Male);膜蛋白质类(Membrane Proteins);中年人(Middle Aged);突变(Mutation);神经纤维(Nerve Fibers);眼震, 先天性(Nystagmus, Congenital);视盘(Optic Disk);视网膜(Retina);体层摄影术, 光学相干(Tomography, Optical Coherence)

DOI 10.1093/hmg/ddu122

PMID 24688117

发布时间 2022-01-29

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Abnormal retinal development associated with FRMD7 mutations.

Human molecular genetics

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Human molecular genetics

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Abnormal retinal development associated with FRMD7 mutations.

Human molecular genetics

相似文献

Human molecular genetics

相关期刊

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