Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ben El Haj, 2016 Family study 1 n.a. 100% 54 p.Leu539Phe: hom
Halder, 2015 Mutational screen 1 n.a. 100% 31 p.Gln267*: hom
Al-Mubarak, 2015 Mutational screen 3 n.a. 67% 50(+/-17) p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015 Mutational screen 3 O 33% 50(+/-17) p.Leu347Pro: hom
Siuda, 2014 Family study 2 C 50% 22(+/-8) p.Gln456*: hom
Monroy-Jaramillo, 2014 Mutational screen 9 O 67% 30(+/-8) 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.Tyr444Metfs*39: hom
p.Cys92Alafs*15: hom
 Show more (+2)
Koziorowski, 2013 Mutational screen 1 C 0% n.a. p.Ile368Asn: hom
Darvish, 2013 Mutational screen 7 O n.a. 25 c.(387+1_388-1)_(959+1_960-1)del
+ c.(387+1_388-1)_(675+1_676-1)del: comp. het.
c.(776+1_777-1)_(959+1_960-1)del: hom
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Kilarski, 2012 Mutational screen 1 A 0% 29 p.Leu347Pro: hom
Lohmann, 2012 Other/Mixed 3 n.a. 100% 40(+/-10) p.Leu31*: hom
p.Pro416Leu: hom
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