Table 2

Mutation and polymorphisms in MPS II patient

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


Chkioua et al. Diagnostic Pathology 2011 6:42   doi:10.1186/1746-1596-6-42

Open Data