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. 2011 Sep 6;4:323. doi: 10.1186/1756-0500-4-323

Table 2.

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

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