Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
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M. Venturini | P. Calzavara-Pinton | M. Ritelli | M. Colombi | N. Chiarelli | C. Dordoni | S. Quinzani