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Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall

BiologyGenetic AnalysisExon Deletion MutationMendelian DisorderGenetic DisorderMedicineGeneticsPoint MutationApparent HomozygosityMolecular GeneticsGenetic VariationDisease Gene IdentificationGenomicsMolecular Diagnostics