A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification

Human Mutation, EarlyView.

Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: YohanBignon , AlexiAlekov , NadiaFrachon , OlivierLahuna , CarineJean ‐Baptiste Doh‐Egueli , GeorgesDeschênes , RosaVargas‐Poussou , StéphaneLourdel Source Type: research