Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family

by Peng Fan, Chao-Xia Lu, Kun-Qi Yang, Pei-Pei Lu, Su-Fang Hao, Fang Luo, Hui-Min Zhang, Lei Song, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
Published 2019-08-01

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation

by Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
Published 2017-05-01

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

by Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang, Xian-Liang Zhou
Published 2018-12-01

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

by Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui
Published 2019-01-01