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Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families

BiologyHigh Mutation FrequencyAffected Afrikaner FamiliesMolecular Evolutionary EcologyPhylogeneticsMolecular EcologyMedicineGeneticsNatural SciencesEvolutionary GeneticsMolecular GeneticsGenetic VariationPpox GeneGenomicsPopulation GeneticsPhylogenetic Analysis