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Overview of included studies for PARK-ATP13A2:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Malakouti-Nejad, 2014 Other/Mixed 3 n.a. 67% 18(+/-11) p.Gln858*: hom
Bras, 2012 Family study 3 n.a. 33% 14(+/-2) p.Met854Arg: hom
Crosiers, 2011 Family study 1 n.a. 100% n.a. p.Phe851Cysfs*6: hom
Di Fonzo, 2007 Other/Mixed 1 n.a. 100% 12 p.Gly504Arg: hom
Ramirez, 2006 Family study 9 n.a. 78% 14(+/-2) p.Tyr1020Thrfs*3
+ p.Gly399_Leu435del: comp. het.
p.Leu552Profs*238: hom
Quinn, 1995 Family study 2 n.a. 50% 17(+/-1) p.Thr368Argfs*29: hom