V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman.
Key Laboratory of Endocrinology of the Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China.
Hongbo
H
Yang
Key Laboratory of Endocrinology of the Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China. Electronic address: huabingzhang@yahoo.com.
Huabing
H
Zhang
Key Laboratory of Endocrinology of the Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Beijing, China.
Xiaoping
X
Xing
D044466:Asian People; D000068476:Beijing; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type