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

Ross BMC Medicine 2011 9:12   doi:10.1186/1741-7015-9-12