Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.

doi:10.1111/j.1600-0625.1998.tb00309.x

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Article

Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.

Experimental dermatology - 1 Jan 2000

Cserhalmi-Friedman P B, Baden H, Burgeson R E, Christiano A M

Abstract excerpt

Epidermolysis bullosa (EB) is a group of genodermatoses characterized by fragility and easy blistering of the skin. In the junctional forms of EB (JEB), blisters occur at the level of the lamina lucida, and specific mutations have been detected in the genes encoding different components of the he...

Topics

Adult
Epidermolysis Bullosa, Junctional
Exons
Female
Humans
Laminin
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
RNA Splicing

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