Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Choi, 2008 Mutational screen 2 A n.a. 19(+/-8) c.(412+1_413-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Funayama, 2008 Other/Mixed 5 A 40% 17(+/-3) p.Ala138Glyfs*7
+ p.Cys441Arg: comp. het.
p.Thr175Profs*2: hom
Sironi, 2008 Other/Mixed 14 n.a. 50% 31(+/-8) c.(171+1_172-1)_(412+1_413-1)dup
+ p.Cys238Trp: comp. het.
p.Glu409*: hom
c.(7+1_8-1)_(171+1_172-1)dup
+ p.Thr240Met: comp. het.
p.Cys253Tyr: hom
p.Arg275Trp
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Arg42Pro
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+6)
Aguiar, 2008 Mutational screen 4 n.a. n.a. 26(+/-12) c.1286-3C>G: hom
c.(171+1_172-1)_(412+1_413-1)del: het
p.Lys211Asn: hom
Moro, 2008 Mutational screen 5 n.a. 40% 28(+/-11) p.Gln34Argfs*10: hom
c.(7+1_8-1)_(618+1_619-1)del
+ c.(871+1_872-1)_(933+1_934-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del: hom
Show more (+1)
Kobayashi, 2008 Sib pair study 2 A 50% 38(+/-0) c.(412+1_413-1)_(534+1_535-1)del: hom
Chung, 2008 Other/Mixed 1 n.a. 100% 16 c.(171+1_172-1)_(412+1_413-1)del
+ c.(?_-103-1)_(534+1_535-1)del: comp. het.
Bras, 2008 Mutational screen 5 C n.a. 35(+/-12) p.Glu395*
+ c.(933+1_934-1)_(1083+1_1084-1)dup: comp. het.
c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(618+1_619-1)dup: comp. het.
p.Asn52Metfs*29: hom
Chan, 2008 Mutational screen 3 A 0% 27(+/-9) p.Asp460Glyfs*8
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
Dafotakis, 2008 Case report/Case series 1 n.a. 100% 38 c.(412+1_413-1)_(618+1_619-1)del: hom