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• 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
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• Amano, S.
• Anton-Lamprecht, Ingrun
• Burgeson, R. E.
• Christiano, Angela M.
• Uitto, J.

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