Overview of included studies for PARK-PINK1:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Monroy-Jaramillo, 2014 Other/Mixed 9 O 67% 30(+/-8) c.(?_-94)_(387+1_388-1)del: hom
c.(776+1_777-1)_(1123+1_1124-1)del
+ c.(387+1_388-1)_(675+1_676-1)del: comp. het.
c.(387+1_388-1)_(675+1_676-1)dup
+ c.(959+1_960-1)_(1123+1_1124-1)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)_(675+1_676-1)del
+ c.(387+1_388-1)_(959+1_960-1)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
Scornaienchi, 2012 Mutational screen 3 n.a. 67% 41(+/-13) p.Gln126Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Samaranch, 2010 Family study 6 n.a. 50% 30(+/-10) p.Leu485_Arg497del: hom
p.Leu485_Arg497del
+ p.Glu417_Arg497del: comp. het.
Keyser, 2010 Mutational screen 3 I 0% 43(+/-5) p.Tyr258*: hom
Cazeneuve, 2009 Family study 3 n.a. 67% 16(+/-5) deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009 Mutational screen 1 n.a. 0% 24 c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
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