CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor
携带变异 p.Phe312del 的 CFTR 表现出与表型不一致的功能,且对 ivacaftor 的反应可忽略不计
期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.148841
Karen S Raraigh, Kathleen C Paul, Jennifer L Goralski, Erin N Worthington, Anna V Faino, Stanley Sciortino, Yiting Wang, Melis A Aksit, Hua Ling, Derek L Osorio, Frankline M Onchiri, Shivani U Patel, Christian A Merlo, Kristina Montemayor, Ronald L Gibson, Natalie E West, Amita Thakerar, Robert J Br