Article
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
Nature genetics - 1 Jun 1995
Vidal F, Aberdam D, Miquel C, Christiano A M, Pulkkinen L, Uitto J, Ortonne J P, Meneguzzi G
Abstract excerpt
Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Epidermolysis Bullosa, Junctional
- Fatal Outcome
- Female
- Gene Expression
- Humans
- Infant, Newborn
- Integrin alpha6
- Integrin beta4
- Integrins
- Keratinocytes
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation