Article
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.
The British journal of dermatology - 1 May 1997
Ashton G H, Mellerio J E, Dunnill M G, Pulkkinen L, Christiano A M, Uitto J, Eady R A, McGrath J A
Abstract excerpt
The three genes (LAMA3, LAB3 and LAMC2) that encode the anchoring filament protein, laminin 5, may all harbour pathogenetic mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa (JEB). Recently, one particular mutation, R635X in the LAMB3 gene, has been f...
Topics
- Alleles
- Epidermolysis Bullosa, Junctional
- Female
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Laminin
- Male
- Pedigree
- Point Mutation
- United Kingdom