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| HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA IS LINKED TO MUTATIONS IN THE GENE (LAMC2) FOR THE GAMMA-2 SUBUNIT OF NICEIN/KALININ (LAMININ-5) |
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| Author(s): ABERDAM D, GALLIANO MF, VAILLY J, PULKKINEN L, BONIFAS J, CHRISTIANO AM, TRYGGVASON K, UITTO J, EPSTEIN EH, ORTONNE JP, MENEGUZZI G |
| Source: NATURE GENETICS Volume: 6 Issue: 3 Pages: 299-304 Published: MAR 1994 |
| Times Cited: 252 References: 35 |
| Abstract: We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes. In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta=0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease. In one family, a homozygous point mutation leading to a premature stop codon (CGA to TGA) was identified in exon 3 of the gene. The segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results. |
| Document Type: Article |
| Language: English |
Addresses:
1. FAC MED NICE, INSERM, U385, F-06107 NICE 2, FRANCE
2. THOMAS JEFFERSON UNIV, DEPT DERMATOL, PHILADELPHIA, PA 19107 USA
3. UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA
4. UNIV OULU, BIOCTR, SF-90570 OULU, FINLAND
5. UNIV OULU, DEPT BIOCHEM, SF-90570 OULU, FINLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MZ562 |
| ISSN: 1061-4036 |
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