Overview of included studies for PARK-PINK1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Choi, 2008Mutational screen<501An.g.n.g.p.Asn367Ser + p.Asn521Ilefs*2: comp. het.
Kumazawa, 2008Mutational screennone5n.g.n.g.34 (+/-20)p.Thr313Met: hom
p.Cys388Arg: hom
p.Trp437Arg: hom
p.Asp297Metfs*22: hom
Moro, 2008Mutational screen<451n.g.n.g.31p.Val170Gly: hom
Savettieri, 2008Family studynone2n.g.n.g.29 (+/-1)p.Asp297Metfs*22: hom
Gelmetti, 2008Case report / Case seriesnone1n.g.n.g.67p.Ala244Gly + p.Val317Ile: comp. het.
Prestel, 2008Family studynone2n.g.n.g.38 (+/-3)p.Gln126Pro: hom
Weng, 2007Mutational screen<402An.g.19 (+/-1)p.Arg492* + p.Gln239*: comp. het.
p.Arg492*: hom
Marongiu, 2007Family studynone1n.g.n.g.38c.1252-2_1272del + c.(?_-94)_(*820_?)del: comp. het.
Doostzadeh, 2007Mutational screennone1n.g.n.g.30p.Leu347Pro: hom
Chishti, 2006Other / Mixednone2Bn.g.32 (+/-3)p.Thr313Met: hom