摘要
A novel KCNJ5 mutation (145 - 147delETEinsK) was detected in a female patient with aldosterone-producing adenoma. The mutation resulted in increased aldosterone production in the absence or presence of angiotensin II. Loss of K+ selectivity, increased Na+ conductance, membrane depolarization and Ca2+ influx were involved in the process.
- 出版日期2017-11
- 单位上海市闵行区中心医院; 医学基因组学国家重点实验室; 中国科学院; 上海交通大学; 同济大学; 中国科学院上海生命科学研究院; 复旦大学