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    Science. 1991 Nov 22;254(5035):1202-5.

    Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

    Bonifas JM, Rothman AL, Epstein EH Jr.

    Department of Dermatology, San Francisco General Hospital, University of California 94110.

    Comment in:

    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.

    PMID: 1720261 [PubMed - indexed for MEDLINE]

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