Publication | Closed Access

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene

Functional GenomicsDmd GeneMedicineGeneticsNext-generation SequencingGenetic EpidemiologyTargeted Next-generation SequencingPathologyPersonal GenomicsAmbiguous Mlpa ResultsDisease Gene IdentificationGenomicsMolecular DiagnosticsBioinformaticsVariant Interpretation