Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)
- 1 January 1994
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 102 (1) , 24-30
- https://doi.org/10.1111/1523-1747.ep12371726
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Monospecific monoclonal antibodies to keratin 1 carboxy terminal (synthetic peptide) and to keratin 10 as markers of epidermal differentiationBritish Journal of Dermatology, 1993
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexNature Genetics, 1993
- Keratin Intermediate Filament Structure: Crosslinking Studies Yield Quantitative Information on Molecular Dimensions and Mechanism of AssemblyJournal of Molecular Biology, 1993
- The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro.The Journal of cell biology, 1992
- α-Helix stability in proteinsJournal of Molecular Biology, 1992
- α-Helix stability in proteinsJournal of Molecular Biology, 1992
- Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)Journal of Investigative Dermatology, 1992
- Polymorphic Keratins in Human EpidermisJournal of Investigative Dermatology, 1987
- Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells.Journal of Medical Genetics, 1986
- Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteinsJournal of Molecular Biology, 1978