Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Doostzadeh, 2007 Mutational screen 1 n.a. 0% 30 p.Leu347Pro: hom
Chishti, 2006 Other/Mixed 2 B n.a. 32(+/-3) p.Thr313Met: hom
Leutenegger, 2006 Family study 5 B 40% 13(+/-2) p.Ala217Asp: hom
Hedrich, 2006 Family study 4 C 25% 50(+/-9) p.Gln456*: hom
Criscuolo, 2006 Other/Mixed 1 n.a. 0% 22 p.Trp437*: hom
Zadikoff, 2006 Case report/Case series 1 n.a. 100% 37 p.Gln456*: hom
Tan, 2006 Mutational screen 2 n.a. 50% 38(+/-19) p.Arg246*: hom
p.Tyr258*: hom
Ibáñez, 2006 Other/Mixed 12 n.a. 50% 35(+/-8) p.Gln456*: hom
p.Gln456*
+ p.Cys125Gly: comp. het.
p.Glu240Lys: hom
p.Leu369Pro
+ p.Arg492*: comp. het.
p.Gly386Ala: hom
p.Gly409Val: hom
p.Lys520Argfs*3: hom
p.Lys24Glyfs*31
 Show more (+5) + p.Cys549Trpfs*5: comp. het.
Bonifati, 2005 Mutational screen 3 n.a. 33% 32(+/-3) p.Ala168Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Klein, 2005 Mutational screen 1 n.a. 0% 32 p.Gln534_Ser535insGln: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95
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