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Niemann–Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families☆

Npc2 Genetic VariationsNiemann–pick C DiseaseMedicineInherited Metabolic DiseaseGenetic EpidemiologyPathologyClinical ChemistryMolecular DiagnosticsMolecular MedicineLaboratory MedicineGenetic MedicineClinical Genetics