Article
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
Molecular medicine (Cambridge, Mass.) - 1 Feb 1997
Pulkkinen L, McGrath J, Airenne T, Haakana H, Tryggvason K, Kivirikko S, Meneguzzi G, Ortonne J P, Christiano A M, Uitto J
Abstract excerpt
BACKGROUND: Laminin 5, an anchoring filament attachment protein within the lamina lucida of the basement membrane zone involved in the pathogenesis of junctional epidermolysis bullosa (JEB), consists of three polypeptide subunits, the alpha 3, beta 3, and gamma 2 chains which are encoded by the L...
Topics
- Epidermolysis Bullosa, Junctional
- Female
- Genomic Imprinting
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Laminin
- Male
- Microscopy, Electron
- Molecular Sequence Data
- Mutation