Publication | Open Access

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Mendelian DisorderGenetic DisorderGeneticsPathogenesisInherited Metabolic DiseaseGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene IdentificationClassic Juvenile PhenotypeNiemann-pick C1 DiseaseMedicineVariant InterpretationClinical GeneticsFrequent Mutant Allele