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 |