Figure 2.

Direct sequencing of IDUA gene in Tunisian MPS I patients. 2a: Patient 1 (family 1): p.Y581X point mutation. 2b: Patient 2 (family 2): p.F177S point mutation. 2c: Patients 3, 5 and 6 (families 3, 5 and 6): p.P533R point mutation. 2d: Patient 4 (family 4): p.L530fs frame shift mutation. (w): mutant sequence, (w+): wild -type sequence.

Chkioua et al. Diagnostic Pathology 2011 6:47   doi:10.1186/1746-1596-6-47
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