Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia

被引：0
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作者：
Fen-Fen Li
Xiu-Feng Huang
Jie Chen
Xu-Dong Yu
Mei-Qin Zheng
Fan Lu
Zi-Bing Jin
De-Kang Gan
机构：
[1] Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science
[2] Eye and ENT Hospital of Fudan University,Department of Ophthalmology
来源：
Journal of Translational Medicine | / 13卷
关键词：
Targeted exome sequencing; Genotype-phenotype; Novel mutations; Achromatopsia; Genetic diagnosis;
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