A novel ATP2A2 missense mutation p.Asp254Gly in Darier disease restricted to the extremities.
Moriuchi
Reine
R
Akiyama
Masashi
M
Onozuka
Takashi
T
Shimizu
Hiroshi
H
D000328:Adult; D001132:Arm; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007866:Leg; D020125:Mutation, Missense; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human