A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease.
Hamada
T
T
Ishii
N
N
Fukuda
S
S
Takagi
A
A
Yasumoto
S
S
Ikeda
S
S
Hashimoto
T
T
D000328:Adult; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D008297:Male; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*; D017384:Sequence Deletion
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human