Table 11 De-Novo conversion events in disease [1].
Disease | Donor | Acceptor |
|---|---|---|
Atypical haemolytic uraemic syndrome | CFHR1 | CFH |
Congenital adrenal hyperplasia | CYP21A1P | CYP21A2 |
Neural tube defects | FOLR1P | FOLR1 |
Hereditary persistence of fetal haemoglobin | HBG2 | HBG1 |
Shwachman-Diamond syndrome | SBDSP | SBDS |