Overview of included studies for PARK-PINK1 (PARK6):
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carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Halder, 2015 Mutational screen none 1 n.g. 100 31 p.Gln267*: hom
Al-Mubarak, 2015 Mutational screen none 3 n.g. 67 50 (+/-17) p.Gly409Arg: hom;
p.Thr313Met: hom
Steele, 2015 Mutational screen none 3 O 33 50 (+/-17) p.Leu347Pro: hom
Siuda, 2014 Family study none 2 C 50 22 (+/-8) p.Gln456*: hom
Monroy-Jaramillo, 2014 Other / Mixed none 9 O 67 30 (+/-8) p.Tyr444Metfs*39: hom;
c.(?_-94)_(387+1_388-1)del: hom;
c.(387+1_388-1)_(675+1_676-1)del + c.(776+1_777-1)_(1123+1_1124-1)del: comp. het.;
c.(959+1_960-1)_(1123+1_1124-1)dup + c.(387+1_388-1)_(675+1_676-1)dup: comp. het.;
p.Cys92Alafs*15: hom

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Koziorowski, 2013 Mutational screen <45 1 C 0 n.g. p.Ile368Asn: hom
Darvish, 2013 Mutational screen none 7 O n.g. 25 c.(776+1_777-1)_(959+1_960-1)del: hom;
c.(959+1_960-1)_(1123+1_1124-1)del: hom;
c.(387+1_388-1)_(675+1_676-1)del + c.(387+1_388-1)_(959+1_960-1)del: comp. het.
Kilarski, 2012 Mutational screen <44 1 A 0 29 p.Leu347Pro: hom
Lohmann, 2012 Other / Mixed none 3 n.g. 100 40 (+/-10) p.Leu31*: hom;
p.Pro416Leu: hom
Scornaienchi, 2012 Mutational screen none 3 n.g. 67 41 (+/-13) p.Trp437*: hom;
p.Gln456*: hom;
p.Gln126Pro: hom