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A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.

AuthorsA Nishizawa, Y Toyomaki, A Nakano, S Takeuchi, Y Matsuzaki, H Takeda, T Kaneko, Y Mitsuhashi, H Nakano
JournalThe British journal of dermatology (Br J Dermatol) Vol. 156 Issue 5 Pg. 1042-4 (May 2007) ISSN: 0007-0963 [Print] England
PMID17408392 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Keratin-2
Topics
  • Adult
  • Aged
  • Asian People (genetics)
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Ichthyosis Bullosa of Siemens (genetics, pathology)
  • Japan
  • Keratin-2 (genetics)
  • Male
  • Pedigree

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