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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
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Acta Neuropathologica Communications

ISSN: 2051-5960

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