Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations

por Zhu, Qing, Rui, Xue, Li, Ya, You, Ya, Sheng, Xun-Lun, Lei, Bo
Publicado 2021

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

por Cheng, Wan-Yu, Ma, Mei-Jiao, Yuan, Shi-Qin, Qi, Xiao-long, Rong, Wei-Ning, Sheng, Xun-Lun
Publicado 2022

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography

por Cheng, Wan-Yu, Yang, Shang-Ying, Huang, Xiao-Yu, Zi, Fei-Yin, Li, Hui-Ping, Sheng, Xun-Lun
Publicado 2022

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

por Minegishi, Yuriko, Sheng, XunLun, Yoshitake, Kazutoshi, Sergeev, Yuri, Iejima, Daisuke, Shibagaki, Yoshio, Monma, Norikazu, Ikeo, Kazuho, Furuno, Masaaki, Zhuang, Wenjun, Liu, Yani, Rong, Weining, Hattori, Seisuke, Iwata, Takeshi
Publicado 2016