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Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Rare DiseasesDystrophin GeneMendelian DisorderGenetic DisorderGeneticsPathologyDegenerative DiseaseMolecular GeneticsNovel Nonsense MutationDisease Gene IdentificationMedicineMild Dystrophinopathy