Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng1193-294.pdf
Reference45 articles.
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2. Lane, E.B. et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244–246 (1992).
3. Bonifas, J.M., Rothman, A.L. & Epstein, E.H. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254, 1202–1205 (1991).
4. Humphries, M.M. et al. A mutation (Met-to-Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum Mutat 2, 37–42 (1993).
5. Dong, W., Ryynänen, M. & Uitto, J. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. Hum. Mutat. 2, 94–102 (1993).
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