Journal of Dermatological Science
Volume 59, Issue 2 , Pages 136-140, August 2010

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

  • Barbora Jeřábková

      Affiliations

    • Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic
    • Division of Functional Genomics and Proteomics, Dept. Exp. Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
    • These authors contributed equally to this work.
  • Lenka Fajkusová

      Affiliations

    • Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic
    • Division of Functional Genomics and Proteomics, Dept. Exp. Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
    • Corresponding Author InformationCorresponding author at: Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Černopolní 9, CZ-62500 Brno, Czech Republic. Tel.: +420 532234625, fax: +420 532234623.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic

Pediatric Clinic, University Hospital Brno, Masaryk University, Brno, Czech Republic

Institute of Pathologic Anatomy, St Anne's University Hospital, Brno, Czech Republic

Pediatric Clinic, University Hospital Brno, Masaryk University, Brno, Czech Republic

Received 22 February 2010 published online 12 July 2010.

Keywords: Dystrophic epidermolysis bullosa, Collagen VII, Mutation analysis, Phenotype

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PII: S0923-1811(10)00191-X

doi:10.1016/j.jdermsci.2010.05.007

Journal of Dermatological Science
Volume 59, Issue 2 , Pages 136-140, August 2010

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