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Fig. 3 | Diagnostic Pathology

Fig. 3

From: Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

Fig. 3

Effects of IDUA splice site mutation. a Mutation c.1650 + 1G > T, which abolies a splice donor (GT) within intron 11, resulting in skipping of the exon 11. b Mutation c.1650 + 1G > T, which creates an alternate cryptic splicing site, resulting in the deletion of 169 nucleotides at the end of the exon 11 giving a new size of exon 11 about 135 bp. c Mutation c.1650 + 1G > T which retains the part of the intron 11

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