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Table 2 Mutation and polymorphisms in MPS II patient

From: Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

Mutation

Nucleotide change

Position cDNA

Codon

Exon/Intron

References

polymorphisms

Exon/intron

References

      

IVS3-16

c.419-16 delT

4

 
      

T146T

c.438 C > T

4

[31]

p.R88P

G > C

263

88

3

[28]

T214M

c.641 C > T

5

 
      

IVS5-87

c.709-87 G > A

6

 
      

IVS7+38

c.1006+38 T > C

7

This report