A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2007.07832.x/fullpdf
Reference8 articles.
1. New consensus nomenclature for mammalian keratins
2. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
3. Genomic Organization and Fine Mapping of the Keratin 2e Gene (KRT2E): K2e V1 Domain Polymorphism and Novel Mutations in Ichthyosis Bullosa of Siemens
4. The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/keratin 10 intermediate filaments at the two- to four-molecule level of structure.
5. Epidermal disease: faulty keratin filaments take their toll
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