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A novel point mutation in an acceptor splice site of intron 32 (IVS32 A -12 →G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

Genetic DisorderMedicineGeneticsEnzyme GeneNatural SciencesGene StructureMolecular BiologyExon 3Molecular GeneticsDisease Gene IdentificationGenomicsGene ExpressionMolecular DiagnosticsSplicing VariantLysosomal Storage DiseaseNovel Point Mutation