Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa

M. Terracina, P. Posterare, M. Schubert, G. Sonego, F. Atzori, G. Zambruno, L. Bruckner-Tuderman, D. Castiglia

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