Article
Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
The Journal of experimental medicine - 20 Apr 1998
Matsui C, Pereira P, Wang C K, Nelson C F, Kutzkey T, Lanigan C, Woodley D, Morohashi M, Welsh E A, Hoeffler W K
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotr...
Topics
- Adult
- Cell Adhesion Molecules
- Child
- Codon, Terminator
- Epidermolysis Bullosa, Junctional
- Humans
- Infant
- Keratinocytes
- Models, Molecular
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Protein Binding
- Protein Conformation
- RNA, Messenger