|
Resolution: standard / high 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 |