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Overview of included studies for PARK-Parkin:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Chung, 2006 Mutational screen 3 A n.a. 23(+/-14) c.(7+1_8-1)_(171+1_172-1)del
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)dup: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Sun, 2006 Family study 24 n.a. n.a. 39(+/-13) p.Gly430Asp: hom
p.Pro437Leu
+ p.Pro113Thrfs*51
+ p.Gly430Asp: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Arg275Trp: comp. het.
p.Asn52Metfs*29: comp. het.
p.Cys253Tyr
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(933+1_934-1)del: comp. het.
c.(618+1_619-1)_(933+1_934-1)dup: hom
c.(1285+1_1286-1)_(*2679_?)dup: het
c.(?_-103-1)_(7+1_8-1)dup: hom
c.(933+1_934-1)_(1083+1_1084-1)dup
Show more (+9) + c.(?_-103-1)_(7+1_8-1)dup: comp. het.
Hertz, 2006 Mutational screen 2 n.a. 0% 33(+/-4) p.Arg234Gln
+ p.Arg33Gln: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
Clark, 2006 Mutational screen 1 C n.a. 38 p.Pro113Thrfs*51: hom
Chien, 2006 Other/Mixed 10 C 80% 31(+/-10) c.7+1G>T: hom
Madegowda, 2005 Mutational screen 3 I 33% 39(+/-6) p.Thr240Met: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Ohsawa, 2005 Other/Mixed 9 A 44% 37(+/-11) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Clarimon, 2005 Family study 4 JO 50% 24(+/-10) c.(412+1_413-1)_(734+1_735-1)del: hom
Poorkaj, 2005 Mutational screen 2 n.a. 0% 12(+/-5) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
Bertoli-Avella, 2005 Other/Mixed 22 n.a. n.a. 27(+/-9) c.(171+1_172-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Thr415Asn
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys418Arg: comp. het.
c.535-49422_619-12906del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Arg42Pro
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.1286-3C>G: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
c.872-60873_1167+2393del: hom
Show more (+10)