Article
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
The Journal of investigative dermatology - 1 Aug 1997
Pulkkinen L, Meneguzzi G, McGrath J A, Xu Y, Blanchet-Bardon C, Ortonne J P, Christiano A M, Uitto J
Abstract excerpt
Junctional forms of epidermolysis bullosa (JEB) are characterized by tissue separation at the level of the lamina lucida. We have recently disclosed specific mutations in the LAMA3, LAMB3, and LAMC2 genes encoding the subunit polypeptides of the anchoring filament protein laminin 5 in 66 families with different variants of JEB. Examination of the JEB mutation database revealed recurrence of a particular C-->T...
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