Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento

Por Ma, Li, Sheng, Xun-Lun, Li, Hui-Ping, Zhang, Fang-Xia, Liu, Ya-Ni, Rong, Wei-Ning, Zhang, Jian-Ling
Publicado em 2013

FGFR2 mutation in a Chinese family with unusual Crouzon syndrome

Por Li, Zi-Li, Chen, Xue, Zhuang, Wen-Juan, Zhao, Wei, Liu, Ya-Ni, Zhang, Fang-Xia, Ha, Ruo-Shui, Wu, Jin-Hua, Zhao, Chen, Sheng, Xun-Lun
Publicado no Int J Ophthalmol (2016)