Article
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
Biochemical and biophysical research communications - 24 Feb 1998
Posteraro P, Sorvillo S, Gagnoux-Palacios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G
Abstract excerpt
Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the genes encoding laminin-5 cause junctional epidermolysis bullosa (JEB), a clinically and genetically heterogeneous group of recessively inherited blistering disease of skin and mucous membranes. In this report, we describ...
Topics
- Base Sequence
- Blotting, Northern
- Cell Adhesion Molecules
- Child, Preschool
- Epidermolysis Bullosa, Junctional
- Fluorescent Antibody Technique
- Gene Deletion
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA Precursors