Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
Tsuruta
D
D
Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
Akiyama
M
M
Ishida-Yamamoto
A
A
Imanishi
H
H
Mizuno
N
N
Sowa
J
J
Kobayashi
H
H
Ishii
M
M
Kurokawa
I
I
Shimizu
H
H
D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D055815:Young Adult
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases