Hypokalemic periodic paralysis and mutations in the CACNL1A3 gene: case study in a Japanese family.
Wada
T
T
Department of Pediatrics, Faculty of Medicine, Kanazawa University School of Medicine, Japan. pedialib@med.kanazawa-u.ac.jp
Yachie
A
A
Fujita
S
S
Takei
K
K
Sumita
R
R
Ichihara
T
T
Koizumi
S
S
D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007564:Japan; D020125:Mutation, Missense; D020513:Paralysis, Hyperkalemic Periodic / Q000235:genetics*; D010375:Pedigree
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type