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

• Main Authors: Peng Fan (Author), Chao-Xia Lu (Author), Kun-Qi Yang (Author), Pei-Pei Lu (Author), Su-Fang Hao (Author), Fang Luo (Author), Hui-Min Zhang (Author), Lei Song (Author), Hai-Ying Wu (Author), Jun Cai (Author), Xue Zhang (Author), Xian-Liang Zhou (Author)
• Format: Book
• Published: Karger Publishers, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background/Aims: Liddle syndrome (LS) is a rare autosomal dominant disease caused by mutations in genes coding for epithelial sodium channel (ENaC) subunits. The aim of this study was to identify the mutation responsible for the LS in an extended Chinese family. Methods: DNA samples from the proband...