Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Muñoz, 2002 Mutational screen 7 n.a. 14% 31(+/-7) p.Ala291Leufs*6: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Khan, 2002 Family study 4 n.a. 75% 30(+/-2) c.618+2T>A
+ c.(871+1_872-1)_(933+1_934-1)del: comp. het.
Wu, 2002 Family study 3 A 33% 28(+/-8) c.(171+1_172-1)_(412+1_413-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Nichols, 2002 Sib pair study 23 n.a. n.a. 38(+/-8) c.(412+1_413-1)_(734+1_735-1)del
+ p.Pro113Thrfs*51: comp. het.
p.Lys211Asn
+ c.(7+1_8-1)_(412+1_413-1)dup: comp. het.
p.Pro437Leu
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ c.(871+1_872-1)_(933+1_934-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
 Show more (+5)
Hoenicka, 2002 Family study 11 n.a. 73% 31(+/-3) p.Cys212Tyr
+ p.Val56Glu: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
p.Asn52Metfs*29: hom
 Show more (+1)
Hedrich, 2002 Mutational screen 3 n.a. n.a. 19(+/-7) c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg42Pro: comp. het.
p.Arg275Trp
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
Hilker, 2002 Mutational screen 5 n.a. n.a. n.a. p.Val324Alafs*111
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Val324Alafs*111: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
Pramstaller, 2002 Other/Mixed 1 n.a. 0% 29 c.(734+1_735-1)_(871+1_872-1)dup
+ p.Arg275Trp: comp. het.
Alvarez, 2001 Other/Mixed 3 n.a. 33% 22(+/-2) p.Arg392Serfs*3: hom
Bonifati, 2001 Other/Mixed 2 n.a. 50% 33(+/-3) c.(171+1_172-1)_(1083+1_1084-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
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