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

• मुख्य लेखकों: Peng Fan (लेखक), Chao-Xia Lu (लेखक), Kun-Qi Yang (लेखक), Pei-Pei Lu (लेखक), Su-Fang Hao (लेखक), Fang Luo (लेखक), Hui-Min Zhang (लेखक), Lei Song (लेखक), Hai-Ying Wu (लेखक), Jun Cai (लेखक), Xue Zhang (लेखक), Xian-Liang Zhou (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Karger Publishers, 2019-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...