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Overview of included studies for PARK-DJ1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Taghavi, 2017 Mutational screen 2 n.a. 100% 27(+/-0) p.Asp24Metfs*3: hom
Abbas, 2016 Mutational screen 1 n.a. 100% 22 p.Ile105Phe: hom
Erer, 2016 Mutational screen 1 n.a. 100% 23 c.322+4A>C: hom
Taipa, 2016 Case report/Case series 1 n.a. 100% 22 p.Leu172Gln: hom
Darvish, 2013 Mutational screen 3 O n.a. n.a. c.(252+1_253-1)_(322+1_323-1)del: hom
Ghazavi, 2011 Mutational screen 2 n.a. 100% 20(+/-4) c.91-2A>G: hom
p.Ala107Pro: hom
Hague, 2003 Mutational screen 1 H 0% n.a. p.Thr19Lysfs*5
+ c.410-1G>C: comp. het.
Bonifati, 2003 Family study 7 n.a. n.a. 31(+/-5) c.-4069_322+1852del: hom
p.Leu166Pro: hom