Article
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
American journal of human genetics - 1 Nov 1998
Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J
Abstract excerpt
Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous blistering associated with congenital pyloric atresia. The disease is frequently lethal, but nonlethal cases have also been reported. Expression of the alpha6 beta4 integri...
Topics
- Antigens, CD
- Antigens, Surface
- Blister
- Child
- Codon, Nonsense
- Consanguinity
- Digestive System Abnormalities
- Epidermolysis Bullosa, Junctional
- Female
- Genetic Variation
- Humans
- Infant
- Infant, Newborn
- Integrin alpha6beta4