Publication | Open Access

Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Abcc6 Gene ResultsGeneticsGenome StructureMolecular BiologyGene StructureMolecular GeneticsMutagenesisChromosomal RearrangementGenomicsMedicineGene Deletion DataGenome EditingPseudoxanthoma ElasticumCompound Heterozygosity