Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report

por Huang, Chengzi, Long, Xigui, Peng, Can, Lin, Pengsiyuan, Tan, Hu, Lv, Weigang, Wu, Lingqian
Publicado 2019

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series

por Long, Xigui, Li, Zhuo, Huang, Yanru, Zhang, Li, Lv, Weigang, Teng, Yanling, Linpeng, Siyuan, Liang, Desheng, Wu, Lingqian
Publicado 2019

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

por Long, Xigui, Huang, Yanru, Tan, Hu, Li, Zhuo, Zhang, Rui, Linpeng, Siyuan, Lv, Weigang, Cao, Yingxi, Li, Haoxian, Liang, Desheng, Wu, Lingqian
Publicado 2018