Article
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
The Journal of investigative dermatology - 1 Jun 1997
Lee J Y, Pulkkinen L, Liu H S, Chen Y F, Uitto J
Abstract excerpt
Epidermolysis bullosa pruriginosa is a recently recognized variant of dystrophic epidermolysis bullosa (DEB) characterized by severe pruritus and scarring, mainly involving the extensors of the extremities. In this study, we searched for mutations in the type VII collagen gene (COL7A1) using polymerase chain reaction amplification of exonic segments of COL7A1, followed by heteroduplex analysis, in a Chinese...
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