title: Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.
abstract: Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by disruption of the keratin intermediate filament network of suprabasal keratinocytes. We have used linkage analysis to test whether a keratin gene mutation might underlie this disease. This analysis excluded the keratin gene loci as the sites for the disease-causing mutation in one affected kindred.
authors.affiliation: Department of Dermatology, University of California School of Medicine, San Francisco.
authors.forename: J M
authors.initials: JM
authors.lastname: Bonifas
authors.forename: J W
authors.initials: JW
authors.lastname: Bare
authors.forename: M A
authors.initials: MA
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Ranki
authors.forename: K M
authors.initials: KM
authors.lastname: Neimi
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
mesh_terms: D002881:Chromosomes, Human, Pair 12; D005192:Family Health; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D007633:Keratins