DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

• DOI: 10.1016/j.nmd.2021.12.004
• Publication Date: 2021-12-17T17:04:51Z
• Authors: Akatsuki Kubota; Hiroyuki Ishiura; Kristine Joyce Li...; Masaki Tanaka; Jun Mitsui; Atsushi Unuma; Hisataka Maki; Issei Komuro; Shoji Tsuji; Jun Shimizu; Tatsushi Toda
• Keywords: Breakpoint; Gene rearrangement; Segmental duplication; Southern blot