^pof;
Endocrinology,;
Xinhua;
Hospital,;
Shanghai;
Jiao;
Tong;
University;
School;
of;
Medicine,;
Shanghai;
200092,;
China;
^pof;
Nephrology,;
Xinhua;
Hospital,;
Shanghai;
Jiao;
Tong;
University;
School;
of;
Medicine,;
Shanghai;
200092,;
China;
^pEngineering;
Center;
for;
Biochip;
at;
Shanghai,;
Shanghai;
201203,;
China;
突变类型; 综合征; 患者; 剪接; 小说; 代谢性碱中毒; 遗传疾病; 临床特征;