Publication
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1
Sarah A. Cumming, Mark J. Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Anneli Cooper, Berit Adam, Josephine McGhie, Graham Hamilton, Pawel Herzyk, Michael R. Tschannen, Elizabeth Worthey, Richard Petty, Bob Ballantyne, Jon Warner, Maria Elena Farrugia, Cheryl Longman, Darren G. Monckton
European Journal of Human Genetics, July 2018, Springer Science + Business Media
DOI: 10.1038/s41431-018-0156-9