| First Author | Vidal F | Year | 1995 |
| Journal | Nat Genet | Volume | 10 |
| Issue | 2 | Pages | 229-34 |
| PubMed ID | 7545057 | Mgi Jnum | J:48198 |
| Mgi Id | MGI:1266964 | Doi | 10.1038/ng0695-229 |
| Citation | Vidal F, et al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10(2):229-34 |
| abstractText | 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 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading frame, and a downstream premature termination codon. The maternal mutation occurs in a donor splice site, and results in in-frame exon skipping involving the cytoplasmic domain of the polypeptide. Our results implicate mutations in the beta 4 integrin gene in some forms of PA-JEB. |
