Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Valente, 2004 Mutational screen 2 n.a. 50% 38(+/-1) p.Arg464His
+ p.Cys92Phe: comp. het.
p.Ala168Pro: hom
Valente, 2004 Family study 9 n.a. 56% 36(+/-8) p.Gly309Asp: hom
p.Trp437*: hom