Article
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
Nature genetics - 1 Mar 1994
Aberdam D, Galliano M F, Vailly J, Pulkkinen L, Bonifas J, Christiano A M, Tryggvason K, Uitto J, Epstein E H, Ortonne J P
Abstract excerpt
We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes. In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a micro...
Topics
- Base Sequence
- Cell Adhesion Molecules
- DNA Primers
- Epidermolysis Bullosa, Junctional
- Female
- Gene Expression
- Genetic Linkage
- Humans
- Laminin
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Repetitive Sequences, Nucleic Acid