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| MUTATIONS IN THE GAMMA-2 CHAIN GENE (LAMC2) OF KALININ/LAMININ-5 IN THE JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA |
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| Author(s): PULKKINEN L, CHRISTIANO AM, AIRENNE T, HAAKANA H, TRYGGVASON K, UITTO J |
| Source: NATURE GENETICS Volume: 6 Issue: 3 Pages: 293-298 Published: MAR 1994 |
| Times Cited: 207 References: 43 |
| Abstract: Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin gamma 2 chain for mutations in JEB using heteroduplex analysis. One patient showed a homozygous splice site mutation while another was heterozygous for a deletion-insertion, resulting in a premature termination codon in one allele. Our data implicate mutations in the laminin gamma 2 chain gene (LAMC2) in some forms of JEB. |
| Document Type: Article |
| Language: English |
Addresses:
1. THOMAS JEFFERSON UNIV, JEFFERSON MED COLL, JEFFERSON INST MOLEC MED, DEPT DERMATOL, PHILADELPHIA, PA 19107 USA
2. THOMAS JEFFERSON UNIV, JEFFERSON MED COLL, JEFFERSON INST MOLEC MED, DEPT BIOCHEM, PHILADELPHIA, PA 19107 USA
3. THOMAS JEFFERSON UNIV, JEFFERSON MED COLL, JEFFERSON INST MOLEC MED, DEPT MOLEC BIOL, PHILADELPHIA, PA 19107 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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