Abstract
Mutations that change the same amino acid can result in different clinical phenotypes. Through in silico modeling and keratin filament assessment of genetically engineered HaCaT cells, Natsuga et al., as reported in this issue, have demonstrated how changes in charge and structure of a replacement amino acid in keratin 14 can cause disease (KRT14pA413P, EB simplex) or no clinical effect (KRT14pA413T, polymorphism).
Original language | English (US) |
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Pages (from-to) | 1787-1790 |
Number of pages | 4 |
Journal | Journal of Investigative Dermatology |
Volume | 131 |
Issue number | 9 |
DOIs |
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State | Published - Sep 2011 |
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Dermatology
- Cell Biology