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
Epidermolysis bullosa dystrophica dominans (Pasini): A primary structural defect of the anchoring fibrils
Anton-Lamprecht I, Hashimoto I (1976) Epidermolysis bullosa dystrophica dominans (Pasini): a primary structural defect of the anchoring fibrils. Hum Genet 32:69-76
Structural and functional properties of the dermo-epidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa
Tidman MJ, Eady RAJ (1986) Structural and functional properties of the dermo-epidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa. Arch Dermatol 122:278-281
Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa
Uitto J, Hovnanian A, Christiano AM (1995) Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 107:245-252