Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII

• المؤلفون الرئيسيون: Mirko Pinotti, L. Rizzotto, P. Pinton, P. Ferraresi, A. Chuansumrit, P. Charoenkwan, G. MarchettiI, R. Rizzoto, G. Mariani, F. Bernardi
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33646758850&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/61865

Background: Nonsense mutations in coagulation factor (F) VII potentially cause a lethal hemorrhagic diathesis. Readthrough of nonsense mutations by aminoglycosides has been studied in a few human disease models with variable results. Objectives: We investigated the K316X and W364 FVII mutations, ass...