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A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.

AuthorsAlessandro Terrinoni, Aida Leta, Cristina Pedicelli, Eleonora Candi, Marco Ranalli, Pietro Puddu, Mauro Paradis, Corrado Angelo, Giancinto Bagetta, Gerry Melino, Giancinto Baggetta
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 122 Issue 3 Pg. 837-9 (Mar 2004) ISSN: 0022-202X [Print] United States
PMID15086573 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Connexins
  • GJB3 protein, human
Topics
  • Adolescent
  • Connexins (genetics)
  • Erythema (drug therapy, genetics, pathology)
  • Female
  • Humans
  • Keratosis (drug therapy, genetics, pathology)
  • Mutation
  • Skin Diseases, Genetic (drug therapy, genetics, pathology)

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