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

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