Overview of included studies for PARK-PINK1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Ben El Haj, 2016Family studynone1n.g.n.g.54p.Leu539Phe: hom
Halder, 2015Mutational screennone1n.g.n.g.31p.Gln267*: hom
Al-Mubarak, 2015Mutational screennone3n.g.n.g.50 (+/-17)p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015Mutational screennone3On.g.50 (+/-17)p.Leu347Pro: hom
Siuda, 2014Family studynone2Cn.g.22 (+/-8)p.Gln456*: hom
Monroy-Jaramillo, 2014Mutational screen<459On.g.30 (+/-8)c.(?_-94)_(387+1_388-1)del: hom
p.Cys92Alafs*15: hom
c.(959+1_960-1)_(1123+1_1124-1)dup + c.(387+1_388-1)_(675+1_676-1)dup: comp. het.
p.Tyr444Metfs*39: hom
c.(776+1_777-1)_(1123+1_1124-1)del + c.(387+1_388-1)_(675+1_676-1)del: comp. het.

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Koziorowski, 2013Mutational screen<451Cn.g.n.g.p.Ile368Asn: hom
Darvish, 2013Mutational screennone7On.g.25c.(387+1_388-1)_(675+1_676-1)del + c.(387+1_388-1)_(959+1_960-1)del: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)del: hom
c.(776+1_777-1)_(959+1_960-1)del: hom
Kilarski, 2012Mutational screen<441An.g.29p.Leu347Pro: hom
Lohmann, 2012Other / Mixednone3n.g.n.g.40 (+/-10)p.Leu31*: hom
p.Pro416Leu: hom