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Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene.

AuthorsKeiichi Uchiyama, Gen Nakanishi, Noriki Fujimoto, Hajime Nakano, Daisuke Sawamura, Toshihiro Tanaka
JournalEuropean journal of dermatology : EJD (Eur J Dermatol) Vol. 23 Issue 2 Pg. 267-9 (Apr 01 2013) ISSN: 1952-4013 [Electronic] France
PMID23588208 (Publication Type: Case Reports, Letter)
Chemical References
  • Keratin-5
Topics
  • Adolescent
  • Alleles
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex (genetics, pathology)
  • Female
  • Gene Expression
  • Humans
  • Keratin-5 (genetics)
  • Male
  • Pedigree
  • Toes

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