Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa

被引:0
|
作者
Yuchen Lin
Christine L. Xu
Gabriel Velez
Jing Yang
Akemi J. Tanaka
Mark P. Breazzano
Vinit B. Mahajan
Janet R. Sparrow
Stephen H. Tsang
机构
[1] Columbia University,Jonas Children’s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surg
[2] Zhejiang University,Eye Center, Second Affiliated Hospital, School of Medicine
[3] New York-Presbyterian Hospital,Edward S. Harkness Eye Institute
[4] Stanford University,Omics Laboratory, Department of Ophthalmology, Byers Eye Institute
[5] University of Iowa,Medical Scientist Training Program
[6] Veterans Affairs Palo Alto Health Care System,Department of Pathology and Cell Biology
[7] Columbia University Medical Center,Department of Ophthalmology
[8] New York University School of Medicine,undefined
来源
Documenta Ophthalmologica | 2020年 / 140卷
关键词
Retinitis pigmentosa; REEP6; Autosomal recessive; Whole exome sequencing;
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学科分类号
摘要
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页码:67 / 75
页数:8
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