Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis - Chen, Yabin; Zhang, Qingyan; Shen, Tao; Xiao, Xueshan; Li, Shiqiang; Guan, Liping; Zhang, Jianguo; Zhu, Zhihong; Yin, Ye; Wang, Panfeng; Guo, Xiangming; Wang, Jun; et al. (Investigative ophthalmology & visual science, 2013)
Keywords: Adolescent; Adult; Alternative Splicing - genetics; Asian Continental Ancestry Group - genetics; Child; DNA Mutational Analysis - methods; Exome - genetics; Family Health; Female; Genetic Association Studies; Genetic Variation; Humans; Infant; Leber Congenital Amaurosis - ethnology; Leber Congenital Amaurosis - genetics; Male; Pedigree; Young Adult; mutation screening; Chinese; Leber congenital amaurosis; exome sequencing; genotype-phenotype