Table 2.

Genotypes of NPC patients included in the study

Patient	Allele 1	Allele 2	Reference
NPC-1	p.T1205K (c.3614C>A)	p.R607X (c.1819C>T)	Fancello et al. (2009) (patient NP10)
NPC-2	p.V1023G (c.3068T>G)	p.V1023G (c.3068T>G)	Fancello et al. (2009) (patient NP4)
NPC-3	p.Y1019C (c.3056A>G)	p.Y1019C (c.3056A>G)	Fancello et al. (2009) (patient NP29)
NPC-4	p.N1156S (c.3467A>G)	p.N1156S (c.3467A>G)	Fancello et al. (2009) (patient NP14)
NPC-5	p.L1191F (c.3571C>T)	p.L1191F (c.3571C>T)	Fancello et al. (2009) (patient NP2)
NPC-6	p.I1061T (c.3182T>C)	p.I1061T (c.3182T>C)	Fancello et al. (2009) (patient NP25)
NPC-7	p.V1165M (c.3493G>A)	r.0 (c.2795+1G>C)	This study

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