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Overview of included studies for PARK-PINK1:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Al-Mubarak, 2015 Mutational screen 3 n.a. 67% 50(+/-17) p.Thr313Met: hom
p.Gly409Arg: hom
Keyser, 2010 Mutational screen 3 I 0% 43(+/-5) p.Tyr258*: hom
Kumazawa, 2008 Mutational screen 5 n.a. 20% 34(+/-20) p.Thr313Met: hom
p.Cys388Arg: hom
p.Trp437Arg: hom
p.Asp297Metfs*22: hom
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Moro, 2008 Mutational screen 1 n.a. 0% 31 p.Val170Gly: hom
Savettieri, 2008 Family study 2 n.a. 100% 29(+/-1) p.Asp297Metfs*22: hom
Prestel, 2008 Family study 2 n.a. 0% 38(+/-3) p.Gln126Pro: hom
Weng, 2007 Mutational screen 2 A 0% 19(+/-1) p.Gln239*
+ p.Arg492*: comp. het.
p.Arg492*: hom
Chishti, 2006 Other/Mixed 2 B n.a. 32(+/-3) p.Thr313Met: hom
Leutenegger, 2006 Family study 5 B 40% 13(+/-2) p.Ala217Asp: hom
Hedrich, 2006 Family study 4 C 25% 50(+/-9) p.Gln456*: hom