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The yin and the yang of keratin amino Acid substitutions and epidermolysis bullosa simplex.
MedLine Citation:
PMID:  21844930     Owner:  NLM     Status:  In-Data-Review    
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).
Dedee F Murrell; Niken Trisnowati; Spiros Miyakis; Amy S Paller
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of investigative dermatology     Volume:  131     ISSN:  1523-1747     ISO Abbreviation:  J. Invest. Dermatol.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-08-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0426720     Medline TA:  J Invest Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1787-90     Citation Subset:  IM    
1] Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia [2] Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
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