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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Genetic DisorderMedicineGeneticsNatural SciencesBiochemical GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationProfound Biotinidase DeficiencyMutational HotspotProtein GeneticsProteomicsHuman Biotinidase GeneMutagenesis