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Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

Authors

  • M. Ritelli,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
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  • N. Chiarelli,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
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  • S. Quinzani,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
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  • C. Dordoni,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
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  • M. Venturini,

    1. Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy
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  • P. Calzavara-Pinton,

    1. Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy
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  • M. Colombi

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
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  • Funding sources: this study was funded by the Ministero dell’Istruzione, dell’Università e della Ricerca, Fondo per gli Investimenti della Ricerca di Base 2009–2011 and Regione Lombardia (Network-Enabled Drug Design) 2011.

  • Conflicts of interest: none declared.

Marina Colombi.
E-mail: colombi@med.unibs.it

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