Article
A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.
The Journal of investigative dermatology - 1 Apr 1996
McGrath J A, Kivirikko S, Ciatti S, Moss C, Christiano A M, Uitto J
Abstract excerpt
The anchoring filament protein laminin 5 is abnormally expressed in the skin of patients with Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a H-JEB child of first-cousin Pakistani parents, and identified a homozygous C-to-T t...
Topics
- Base Sequence
- Epidermolysis Bullosa, Junctional
- Haplotypes
- Humans
- Infant
- Laminin
- Male
- Molecular Sequence Data
- Mutation
- Pakistan
- Polymorphism, Genetic