Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
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DOI: 10.1016/j.nmd.2018.08.012
Abstract: Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates… read more here.
Keywords: dmd gene; exome sequencing; small mutation; whole exome ... See more keywords