Overview of included studies for PARK-FBXO7:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Wei, 2018 Other/Mixed 1 n.a. 100% 16 p.Asn51Ser
+ p.Glu470*: comp. het.
Conedera, 2016 Other/Mixed 1 n.a. 0% 17 p.Arg498*: hom
Lohmann, 2015 Family study 2 n.a. 50% 47(+/-8) p.Leu34Arg: hom
Gündüz, 2014 Family study 2 n.a. 50% 14(+/-2) p.Arg498*: hom
Yalcin-Cakmakli, 2014 Family study 2 n.a. 50% 12(+/-3) p.Arg498*: hom
Paisán-Ruiz, 2010 Family study 4 n.a. 25% 20(+/-4) p.Arg498*: hom
Di Fonzo, 2009 Family study 4 C 50% 15(+/-4) p.Thr22Met
+ c.1144+1G>T: comp. het.
p.Arg498*: hom
Shojaee, 2008 Other/Mixed 10 n.a. 80% 20 p.Arg378Gly: hom