生物
遗传学
突变
错义突变
外显子组测序
移码突变
眼球震颤
外显子
复合杂合度
表型
桑格测序
遗传异质性
X染色体
基因
先证者
作者
Daniel F. Schorderet,Leila Tiab,Marie-Claire Gaillard,Birgit Lorenz,G. Klainguti,John B. Kerrison,Elias I. Traboulsi,Francis L. Munier
摘要
1. Institut de Recherche en Ophtalmologie (IRO), Sion, Switzerland; 2. Swiss Federal Institute of Technology at Lausanne (EPFL), Switzerland; 3. Dept. of Ophthalmology, University of Lausanne, Lausanne, Switzerland; 4. Jules-Gonin Eye Hospital, Lausanne, Switzerland; 5. Dept. of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics Klinikum, University of Regensburg, Regensburg, Germany; 6. Charleston Neuroscience Institute, Charleston, SC, USA; 7. Cole Eye Institute, Cleveland, OH, USA *Correspondence to Dr Daniel F. Schorderet, IRO – Institut de Recherche en Ophtalmologie, Av du Grand-Champsec 64, 1950 Sion, Switzerland ; Tel. : +4127 205 7900; Fax : +4127 205 7901; E-mail: daniel.schorderet@irovision.ch Contract grant sponsor: Swiss National Science Foundation; Contract grant number: 32-111948.
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