Skip to main content

Table 3 Summary of genotypic data from 72 alleles in 36 enrolled individuals

From: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

  NPC alleles (n = 72)
Total number of different alleles 42
 Known mutations 34
 New mutations 8
DNA level mutations  
 Deletion 4 (5.6%)
 Insertion 5 (6.9%)
 Substitution 63 (87.5%)
Protein level mutations  
 Frameshift 9 (12.5%)
 Missense 55 (76.4%)
 Splice 3 (4.2%)
 Stop codon 3 (4.2%)
 Unknown 2 (2.8%)
  1. NPC: Niemann–Pick disease type C