Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Lücking, 2000Mutational screen<458n.g.n.g.23 (+/-12)p.Cys289Gly: hom
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del + c.(171+1_172-1)_(412+1_413-1)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.
c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs*29: comp. het.

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, 2000Mutational screennone4An.g.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, 1999Family studynone3JOn.g.35 (+/-4)c.(171+1_172-1)_(412+1_413-1)del: hom
Abbas, 1999Family studynone19n.g.n.g.40 (+/-8)p.Thr415Asn: hom
p.Trp453*: hom
p.Lys161Asn + p.Gln34Argfs*5: comp. het.
p.Trp74Cysfs*8: hom
c.(?_-103-1)_(7+1_8-1)del + p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom

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Leroy, 1998Family studynone2n.g.n.g.15 (+/-3)c.(534+1_535-1)_(871+1_872-1)del: hom
Lücking, 1998Family study<448n.g.n.g.30 (+/-16)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Hattori, 1998Mutational screennone2n.g.n.g.24 (+/-16)p.Thr240Arg: hom
p.Gln311*: hom
Kitada, 1998Family studynone3An.g.23 (+/-6)c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(871+1_872-1)del: hom