Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ujike, 2001 Mutational screen 4 A n.a. 29(+/-5) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Pineda-Trujillo, 2001 Other/Mixed 9 n.a. 44% 27(+/-12) p.Trp74Cysfs*8: hom
p.Cys212Tyr: hom
Hayashi, 2000 Family study 4 A 25% 33(+/-5) c.(412+1_413-1)_(534+1_535-1)del: hom
Maruyama, 2000 Family study 17 A 47% 25(+/-9) p.Arg33*: hom
p.Cys431Phe: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Cys431Phe
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: hom
 Show more (+4)
Muñoz, 2000 Other/Mixed 1 n.a. 0% 20 p.Ala291Leufs*6: hom
Klein, 2000 Family study 5 C 80% 49(+/-12) p.Val324Alafs*111
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Lücking, 2000 Mutational screen 9 n.a. 38% 24(+/-11) p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
p.Met1?: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Glu409*
+ c.(734+1_735-1)_(1083+1_1084-1)del: comp. het.
p.Asn52Metfs*29
 Show more (+4) + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Unknown, 2000 Mutational screen 4 A 50% 42(+/-7) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(618+1_619-1)del: hom
Nisipeanu, 1999 Family study 3 JO 100% 35(+/-4) c.(171+1_172-1)_(412+1_413-1)del: hom
Abbas, 1999 Family study 19 n.a. 53% 40(+/-8) p.Thr415Asn: hom
p.Trp453*: hom
p.Lys161Asn
+ p.Gln34Argfs*5: comp. het.
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
 Show more (+4)
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