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Table 2 Diagram of the identified genetic variations after enzymatic digestion with CEL I and ENDO-1 and their location.

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

  

Region 1

Region 2

Region 3

Region 4

Region 5

Region 6

Region 7

  

Exon 1

Exon 2

Exon 3

Exon 4

Exon 5

Exon 6

Exon 7

Haplotype 1

 

-10 C>T

wt

IVS2 - 76_80del5

wt

IVS4

-16A>G

wt

wt

Haplotype 2

Polymorphism

wt

wt

IVS2 - 76_80del5

wt

IVS4

-16A>G

wt

wt

Haplotype 3

 

-12G>A

wt

wt

IVS4

+68A>G

wt

wt

wt

  

-10 C>T

wt

wt

wt

wt

wt

wt

 

Mutations

-30G>A

wt

wt

wt

wt

wt

wt

  

wt

wt

C172Y

wt

wt

wt

wt

  

wt

wt

wt

wt

wt

D313Y

wt

  

wt

wt

wt

wt

wt

wt

wt

  

wt

wt

wt

wt

c.718_9 dellAA

wt

wt

  

wt

wt

D165H

wt

wt

wt

wt