title: Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
authors: Ryo
authors: R
authors: Fukaura
authors: Takuya
authors: T
authors: Takeichi
authors: Yusuke
authors: Y
authors: Okuno
authors: Daiei
authors: D
authors: Kojima
authors: Michihiro
authors: M
authors: Kono
authors: Kazumitsu
authors: K
authors: Sugiura
authors: Yasushi
authors: Y
authors: Suga
authors: Masashi
authors: M
authors: Akiyama
mesh_terms: D000328:Adult; D001706:Biopsy; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D051183:Desmoglein 1 / Q000235:genetics*; D056266:Erythrokeratodermia Variabilis / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D015843:Serpins / Q000235:genetics*; D012867:Skin / Q000648:ultrastructure
chemical_list: D018389:Codon, Nonsense; C495297:DSG1 protein, human; D051183:Desmoglein 1; C114170:SERPINB7 protein, human; D015843:Serpins