A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities

por Zhuang, Jianfu, Chen, Xiaole, Tan, Zhihua, Zhu, Yihua, Zhao, Kanxing, Yang, Juhua
Publicado 2014

Identifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus

por Zhu, Yihua, Zhuang, Jianfu, Ge, Xianglian, Zhang, Xiao, Wang, Zheng, Sun, Ji, Yang, Juhua, Gu, Feng
Publicado 2013

Mutation screening of crystallin genes in Chinese families with congenital cataracts

por Zhuang, Jianfu, Cao, Zongfu, Zhu, Yihua, Liu, Lijuan, Tong, Yi, Chen, Xiaole, Wang, Yaduan, Lu, Cailing, Ma, Xu, Yang, Juhua
Publicado 2019

Novel mutations in HSF4 cause congenital cataracts in Chinese families

por Cao, Zongfu, Zhu, Yihua, Liu, Lijuan, Wu, Shuangqing, Liu, Bing, Zhuang, Jianfu, Tong, Yi, Chen, Xiaole, Xie, Yongqing, Nie, Kaimei, Lu, Cailing, Ma, Xu, Yang, Juhua
Publicado 2018