boy | c.1521_1523delCTT/c.1739_1740insT | c.1521_1523delCTT (donor) | c.1739_1740insT | 9 years | 14 years | FTT, NP, SA positive |
boy | c.1521_1523delCTT/c.3909C>G | c.1521_1523delCTT (donor) | c.3909C>G | birth | 3 months | MI |
girl |
c.1521_1523delCTT/c.1521_1523delCTT | c.1521_1523delCTT (donor) | c.1521_1523 delCTT | 3 months | 13 months | RI, PA positive |
girl |
c.828C>A /c.1521_1523delCTT | c.828C>A (donor) | c.1521_1523delCTT | 11 months | 6 yrs 1 month | RI, PA positive |
boy | c.3909C>G/c.828C>A | c.3909C>G (mother) | c.828C>A | birth | 12 months | MI |