Publication | Open Access

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

BiologyProband MotherMendelian DisorderGenetic DisorderNext-generation SequencingGeneticsMolecular GeneticsDisease Gene IdentificationGenomicsDried Umbilical CordMedicineEpigenetics