A Novel Leucine to Valine Mutation in Residue 7 of the Helix Initiation Motif of Keratin10 Leads to Bullous Congenital Ichthyosiform Erythroderma
- 1 June 2001
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 116 (6) , 991-992
- https://doi.org/10.1046/j.0022-202x.2001.01382.x
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplexHuman Molecular Genetics, 1994
- A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosisHuman Molecular Genetics, 1993
- Keratin Intermediate Filament StructureJournal of Molecular Biology, 1993
- A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisCell, 1992
- Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic HyperkeratosisScience, 1992
- Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.The Journal of cell biology, 1992
- Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin diseaseCell, 1991