Fig. 2.
Sequence analysis.
Patient C3: a C deletion at nucleic acid 554 and a substitution at nucleic acid 567. Patient C2: a 17-bp deletion between nucleic acids 522 and 539. Patient C13: a 28-bp deletion between nucleic acids 508 and 536. Patient C9: a TT insertion at nucleic acid 428. Patient C8: a substitution at nuclei acid 553.