Breakpoint junction features of seven DMD deletion mutations

Keegan NP, Wilton SD, Fletcher S. Breakpoint junction features of seven DMD deletion mutations. Human genome variation 2019;6:39   Abstract Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in early childhood. Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene. Characterizing the junction […]