The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.

by Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye
Published 2020-01-01

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

by Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi
Published 2014-10-01