Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

被引：0
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作者：
Feng-Juan Gao
Guo-Hong Tian
Fang-Yuan Hu
Dan-Dan Wang
Jian-Kang Li
Qing Chang
Fang Chen
Ge-Zhi Xu
Wei Liu
Ji-Hong Wu
机构：
[1] Eye and ENT Hospital,Eye Institute
[2] Fudan University,Shanghai Key Laboratory of Visual Impairment and Restoration
[3] Science and Technology Commission of Shanghai Municipality,State Key Laboratory of Medical Neurobiology
[4] Institutes of Brain Science and Collaborative Innovation Center for Brain Science,NHC Key Laboratory of Myopia
[5] Shanghai Medical College,BGI Education Center
[6] Fudan University,undefined
[7] Fudan University,undefined
[8] BGI-Shenzhen,undefined
[9] BGI-Changyuan,undefined
[10] University of Chinese Academy of Sciences,undefined
来源：
BMC Ophthalmology | / 20卷
关键词：
Choroideremia; Gene mutations; Molecular diagnosis; Optical coherence tomography;
D O I：
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