Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype - Christiano, Angela M.; Anton-Lamprecht, Ingrun; Amano, S.; Ebschner, Ulrike; Burgeson, R. E.; Uitto, J. (American journal of human genetics, 1996)