Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect

by Qian-nan Guo, Hong-dan Wang, Li-zhen Tie, Tao Li, Hai Xiao, Jian-gang Long, Shi-xiu Liao
Published 2017-01-01

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even functio...

by Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu
Published 2020-09-01

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family

by Hong-Yan Liu, Jia Huang, Dong Wu, Tao Li, Liang-Jie Guo, Qian-Nan Guo, Hong-Dan Wang, Rui-Li Wang, Yue Wang
Published 2016-01-01

Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group.

by Chun-mei Shen, Bo-feng Zhu, Ya-jun Deng, Shi-hui Ye, Jiang-wei Yan, Guang Yang, Hong-dan Wang, Hai-xia Qin, Qi-zhao Huang, Jing-Jing Zhang
Published 2010-11-01

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

by Hong-Yan Liu, Ji-Fang Xiao, Jia Huang, Yue Wang, Dong Wu, Tao Li, Hong-Dan Wang, Liang-Jie Guo, Qian-Nan Guo, Hai Xiao, Xue Lyu, Zheng-Hong Yu
Published 2017-01-01