title: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
abstract: Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.
authors.affiliation: Department of Dermatology, San Francisco General Hospital, University of California 94110.
authors.forename: J M
authors.initials: JM
authors.lastname: Bonifas
authors.forename: A L
authors.initials: AL
authors.lastname: Rothman
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
mesh_terms: D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12; D002886:Chromosomes, Human, Pair 17; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000737:chemistry; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D009841:Oligonucleotides; D007633:Keratins