1. Precision Medicine for Heritable Skin Diseases—The Paradigm of Epidermolysis Bullosa 
Jouni Uitto, Velina S. Atanasova, Qiujie Jiang, Andrew P. South 
Journal of Investigative Dermatology Symposium Proceedings 
Volume 19, Issue 2, Pages S74-S76 (December 2018)
DOI: /j.jisp
Copyright © 2018 The Authors Terms and Conditions

2. Figure 1
PTC mutation leads to interrupted translation, followed by ribosome disassembly, polypeptide degradation and nonsense-mediated mRNA decay. Cartoon depicts normal translation of mRNA (upper), interrupted translation as a result of PTC mutation (middle), and read-through of PTC (lower). Lower cartoon shows one possible mechanism of action for amlexanox facilitated read-though. PTC, premature termination codon.
Journal of Investigative Dermatology Symposium Proceedings  , S74-S76DOI: ( /j.jisp )
Copyright © 2018 The Authors Terms and Conditions