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Table 1 Genotypes of patients included in the study

From: Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

Patient Allele 1 Allele 2
NPC-1 c.3182 T > C (p. I1061T) c.3182 T > C (p.I1061T)
NPC-2 c.3182 T > C (p.I1061T) c.3182 T > C (p.I1061T)
NPC-3 c.2291C > T (p.A764V) c.2819C > T (p.S940L)
NPC-4 c.2800C > T (p.R934X) c.3235 T > C (p.F1079L)
  1. The lysosomal accumulation of unesterified cholesterol was demonstrated by filipin staining. All cells presented a classical biochemical phenotype characterized by massive lysosomal accumulation of unesterified cholesterol