DUCHENNE MUSCULAR DYSTROPHY - GENETICS: P.224Whole-genome sequencing reveals a complex intra-chromosomal rearrangement disrupting the dystrophin gene due to an intronic 0.5 Mb-insertion in a boy suffering from Duchenne muscular dystrophy

A. Ille,W.M. Schmidt,M. Gosk-Tomek, S. Weiss,M. Freilinger,R.E. Bittner,G. Bernert

Neuromuscular Disorders（2018）

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