Christiano A.M.,1996c
Christiano A.M., Anton-Lamprecht I., Amano S., Ebschner U., Burgeson R.E., Uitto J. 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. - Am.J.Hum.Genet., 1996, v. 58, p. 682- 693.