Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

doi:10.1093/hmg/5.2.231

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Article

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

Human molecular genetics - 1 Feb 1996

Kivirikko S, McGrath J A, Pulkkinen L, Uitto J, Christiano A M

Abstract excerpt

The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering disease affecting the skin and mucous membranes, and laminin 5 has been implicated as the candidate gene/protein system for most patients with H-JEB. In this study, we have examined a cohort of 14 families with H-...

Topics

Alleles
Base Sequence
DNA Primers
Epidermolysis Bullosa, Junctional
Female
Gene Frequency
Humans
Laminin
Male
Molecular Sequence Data
Mutation
Pedigree

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