Table 2

Mutation frequencies in the MPS I Tunisian patients investigated [2004-2011]

Type of the MPS I Mutation

Number of the MPS I allele for the considered mutation/Total of Tunisian MPS I allele

Percentage of the MPS I allele of the considered mutation

p.P533R

15/28

53.57

p.R628X

2/28

7.14

p.F602X

2/28

7.14

p.Y581X

4/28

14.28

p.L530fs

2/28

7.14

p.F177S

2/28

7.14

p.L578Q

1/28

3.57

Chkioua et al. Diagnostic Pathology 2011 6:113   doi:10.1186/1746-1596-6-113