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| INTEGRIN BETA-4 MUTATIONS ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA |
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| Author(s): VIDAL F, ABERDAM D, MIQUEL C, CHRISTIANO AM, PULKKINEN L, UITTO J, ORTONNE JP, MENEGUZZI G |
| Source: NATURE GENETICS Volume: 10 Issue: 2 Pages: 229-234 Published: JUN 1995 |
| Times Cited: 241 References: 50 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. FAC MED NICE, INSERM, U385, F-06107 NICE 2, FRANCE
2. HOP LOUIS PASTEUR, SERV DERMATOL, F-06002 NICE 1, FRANCE
3. THOMAS JEFFERSON UNIV, DEPT DERMATOL, PHILADELPHIA, PA 19107 USA
4. THOMAS JEFFERSON UNIV, DEPT BIOCHEM & MOLEC BIOL, PHILADELPHIA, PA 19107 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: RA857 |
| ISSN: 1061-4036 |
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