Article
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
The British journal of dermatology - 1 Jun 1997
McMillan J R, McGrath J A, Pulkkinen L, Kon A, Burgeson R E, Ortonne J P, Meneguzzi G, Uitto J, Eady R A
Abstract excerpt
The anchoring filament protein laminin 5 is composed of three polypeptide chains (alpha 3, beta 3 and gamma 2) each encoded by separate genes (LAMA3, LAMB3 and LAMC2, respectively). Mutations in any of these three genes may give rise to the autosomal recessive blistering skin disease, junctional...
Topics
- Adolescent
- Adult
- Aged
- Antibodies, Monoclonal
- Cell Adhesion Molecules
- Child
- Child, Preschool
- DNA Mutational Analysis
- Epidermolysis Bullosa, Junctional
- Genes, Lethal
- Genes, Recessive
- Humans
- Immunohistochemistry
- Infant