Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
Hamada
T
T
Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume 830-0011, Japan. hamataka@med.kurume-u.ac.jp
Yasumoto
S
S
Karashima
T
T
Ishii
N
N
Shimada
H
H
Kawano
Y
Y
Imayama
S
S
McGrath
J A
JA
Hashimoto
T
T
D000328:Adult; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D053547:Keratin-14 / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome
D053547:Keratin-14