Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Farrer, 2001 Other/Mixed 4 C 100% 33(+/-11) p.Arg275Trp
+ p.Pro113Thrfs*51: comp. het.
c.619-46243_734+71252dup: comp. het.
Lücking, 2001 Family study 2 n.a. 100% 44(+/-18) c.(7+1_8-1)_(171+1_172-1)[3]
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(171+1_172-1)[3]: hom
Hedrich, 2001 Mutational screen 5 n.a. 80% 31(+/-11) c.(412+1_413-1)_(534+1_535-1)dup: het
p.Val324Alafs*111: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Lys349Serfs*20
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
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Kuroda, 2001 Family study 3 A 67% 36(+/-2) c.(171+1_172-1)_(534+1_535-1)del: hom
Portman, 2001 Sib pair study 2 JO 100% 28(+/-2) c.(412+1_413-1)_(734+1_735-1)del: hom
Jeon, 2001 Case report/Case series 1 A 0% 12 c.(412+1_413-1)_(534+1_535-1)del: hom
Nisipeanu, 2001 Family study 6 B 83% 30(+/-7) p.Gln34Argfs*10: hom
van de Warrenburg, 2001 Family study 3 n.a. 67% 31(+/-12) p.Lys211Asn
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Terreni, 2001 Mutational screen 3 n.a. 33% 41(+/-12) p.Arg42Pro: hom
Lu, 2001 Other/Mixed 2 n.a. 50% 29(+/-5) c.(171+1_172-1)_(412+1_413-1)del: hom