Article
Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
The Journal of investigative dermatology - 1 May 1996
McGarth J A, Christiano A M, Pulkkinen L, Eady R A, Uitto J
Abstract excerpt
Mutations in the genes encoding laminin 5 (LAMA3, LAMB3, and LAMC2) have been delineated in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant. In this study, we searched for mutations in these genes in two patients wit...
Topics
- Aged
- Alleles
- Base Sequence
- Epidermolysis Bullosa, Junctional
- Female
- Heterozygote
- Humans
- Infant
- Laminin
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction