Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Myhre, 2008 Family study 4 n.a. 25% 30(+/-7) p.Pro416Arg: hom
p.Ser419Pro: hom
Guo, 2008 Other/Mixed 4 A n.a. 26(+/-10) p.Thr313Met: hom
p.Arg492*: hom
Choi, 2008 Mutational screen 1 A n.a. n.a. p.Asn367Ser
+ p.Asn521Ilefs*2: comp. het.
Kumazawa, 2008 Mutational screen 6 n.a. 17% 37(+/-20) p.Cys388Arg: hom
p.Thr313Met: 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
Gelmetti, 2008 Case report/Case series 1 n.a. 0% 67 p.Ala244Gly
+ p.Val317Ile: comp. het.
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
Marongiu, 2007 Family study 1 n.a. 0% 38 c.(?_-94)_(*820_?)del
+ c.1252-2_1272del: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95
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