Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA (2014)
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy
PLoS Genet 10: e1004320