A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

doi:10.1038/356244a0

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Article

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

Nature - 19 Mar 1992

Lane E B, Rugg E L, Navsaria H, Leigh I M, Heagerty A H, Ishida-Yamamoto A, Eady R A

Abstract excerpt

In the hereditary blistering condition epidermolysis bullosa simplex, the skin blisters on trauma following rupture of epidermal basal cells. Clinical variations range from severely incapacitating, especially in early childhood, to mild forms that may not even present clinically. Dowling-Meara ep...

Topics

Amino Acid Sequence
Base Sequence
Epidermolysis Bullosa Simplex
Female
Humans
Keratins
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Protein Conformation

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