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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
Li, 2014 Family study 3 A 67% 33(+/-2) p.Arg275Trp
+ p.Gly284Arg: comp. het.
Monroy-Jaramillo, 2014 Mutational screen 10 H 20% 37(+/-6) c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1285+1_1286-1)_(*2679_?)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del
+ c.(1083+1_1084-1)_(*2679_?)del: comp. het.
c.(933+1_934-1)_(1083+1_1084-1)del: hom
c.(618+1_619-1)_(*2679_?)del
+ c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?)dup: comp. het.
Show more (+7)
Elia, 2014 Other/Mixed 8 n.a. n.a. 29(+/-14) p.Cys212Tyr: hom
p.Lys211Asn
+ p.Pro437Leu: comp. het.
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup
Show more (+4) + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Koziorowski, 2013 Mutational screen 5 n.a. 20% 30(+/-5) p.Gln34Argfs*5: hom
c.(412+1_413-1)_(871+1_872-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gln34Argfs*5
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Lys211Asn
Show more (+1) + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
Darvish, 2013 Mutational screen 38 n.a. n.a. 25(+/-5) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(7+1_8-1)_(*2679_?)del: hom
c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
Show more (+6)
Angeli, 2013 Mutational screen 5 n.a. n.a. 24(+/-11) p.Gly430Asp
+ p.Arg275Trp: comp. het.
p.Gln34Argfs*5: hom
p.Arg156Serfs*29
+ p.Pro113Thrfs*51: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+2)
Doherty, 2013 Case report/Case series 7 n.a. 43% 34(+/-8) p.Pro113Thrfs*51
+ p.Gly430Asp: comp. het.
p.Arg275Trp: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
de Mena, 2013 Mutational screen 16 n.a. n.a. 30(+/-9) p.Trp445*: hom
p.Cys212Tyr: hom
p.Cys212Tyr
+ p.Gln34Argfs*5: comp. het.
p.Arg275Trp
+ p.Asn52Metfs*29: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
p.Arg392Serfs*3: hom
p.Asn52Metfs*29: hom
p.Trp445*: comp. het.
p.Pro202Leu: comp. het.
c.1286-3C>G
Show more (+7) + p.Cys154Phefs*23: comp. het.
Guerrero Camacho, 2012 Other/Mixed 24 H 50% 39(+/-7) c.(1285+1_1286-1)_(*2679_?)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(933+1_934-1)_(1167+1_1168-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(171+1_172-1)_(933+1_934-1)dup: comp. het.
p.Asn52Metfs*29: hom
Show more (+10)
Ruffmann, 2012 Case report/Case series 2 n.a. n.a. n.a. p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.