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 |