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Table 3 List of genetic variants found in the samples analyzed by enzymatic digestion using the CEL I or ENDO-1 endonuclease and by High Resolution Melting.

From: Genetic screening of Fabry patients with EcoTILLING and HRM technology

  Variation EcoTILLING (CelI or EndoI) HRM
Region 1 -10 c>t yes yes
  -12 g>a yes yes
  -30 g>a yes yes
Region 2 IVS2-76_80 del5 yes yes
Region 3 D165H yes yes
  C172Y yes yes
Region 4 IVS4+68 A>G yes yes
Region 5 IVS4-16 A>G yes yes
  c.718_719 del AA yes yes
Region 6 D313Y yes yes
Region 7 IVS6-22 C>T no yes
  G395A no yes
  1. The G395A mutation and the IVS6-22C>T polymorphism, identified exclusively through HRM, are shown in bold.