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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

AuthorsRyo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
JournalActa dermato-venereologica (Acta Derm Venereol) Vol. 97 Issue 3 Pg. 399-401 (03 10 2017) ISSN: 1651-2057 [Electronic] Sweden
PMID27786350 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Codon, Nonsense
  • DSG1 protein, human
  • Desmoglein 1
  • SERPINB7 protein, human
  • Serpins
Topics
  • Adult
  • Biopsy
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Desmoglein 1 (genetics)
  • Erythrokeratodermia Variabilis (diagnosis, genetics)
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Keratoderma, Palmoplantar (diagnosis, genetics)
  • Male
  • Pedigree
  • Phenotype
  • Serpins (genetics)
  • Skin (ultrastructure)

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