title: 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.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.forename: Aileen
authors.initials: A
authors.lastname: Sandilands
authors.forename: Shunpei
authors.initials: S
authors.lastname: Fukuda
authors.forename: Sachiko
authors.initials: S
authors.lastname: Sakaguchi
authors.forename: Bungo
authors.initials: B
authors.lastname: Ohyama
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Yasumoto
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: 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
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins