Article
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.
The Journal of investigative dermatology - 1 Jan 1999
Takizawa Y, Shimizu H, Rouan F, Kawai M, Udono M, Pulkkinen L, Nishikawa T, Uitto J
Abstract excerpt
Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results...
Topics
- Adult
- Child
- Epidermolysis Bullosa
- Exons
- Humans
- Intermediate Filament Proteins
- Male
- Muscular Dystrophies
- Mutation
- Plectin
- Polymerase Chain Reaction