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Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Mendelian DisorderGenetic DisorderMedicineGeneticsMolecular BiologyGenetic MechanismMolecular GeneticsNovel Nonsense MutationDisease Gene IdentificationMolecular Diagnostics