Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.
Uitto
J
J
Department of Dermatology, Jefferson Medical College, Philadelphia, PA 19107, USA.
Hovnanian
A
A
Christiano
A M
AM
D000818:Animals; D018388:Codon, Terminator; D003094:Collagen / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000378:metabolism; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D009154:Mutation
D018388:Codon, Terminator; D003094:Collagen