De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis.
Hamada
Takahiro
T
Sandilands
Aileen
A
Fukuda
Shunpei
S
Sakaguchi
Sachiko
S
Ohyama
Bungo
B
Yasumoto
Shinichiro
S
McLean
W H Irwin
WH
Hashimoto
Takashi
T
D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000150:complications* / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007564:Japan; D008297:Male; D017354:Point Mutation
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins