Article
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.
The Journal of investigative dermatology - 1 Mar 1995
Vailly J, Pulkkinen L, Christiano A M, Tryggvason K, Uitto J, Ortonne J P, Meneguzzi G
Abstract excerpt
We describe a family with the Herlitz type of junctional epidermolysis bullosa, in which the disease is associated with a homozygous splice-site mutation in the gamma 2-chain gene (LAMC2) of laminin-5. The mutation consists of a G-to-T substitution resulting in the out-of-frame skipping of exon 7...
Topics
- Base Sequence
- Cell Adhesion Molecules
- Epidermolysis Bullosa, Junctional
- Exons
- Female
- Gene Deletion
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Kalinin