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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
Infante, 2009 Family study 4 n.a. 75% 30 p.Trp445*: hom
Reetz, 2009 Other/Mixed 6 n.a. 83% 40(+/-17) p.Val324Alafs*111: hom
c.(734+1_735-1)_(871+1_872-1)del
+ p.Val324Alafs*111: comp. het.
p.Arg275Trp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del
Show more (+2) + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Mellick, 2009 Mutational screen 1 n.a. 0% 30 p.Gly430Asp: hom
Guo, 2008 Other/Mixed 18 A n.a. 25(+/-5) p.Cys323_Val324del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Gln34Argfs*5: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys253Phe
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: het
p.Cys441Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+5)
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
p.Thr240Met
+ c.(7+1_8-1)_(171+1_172-1)dup: comp. het.
p.Cys253Tyr: hom
c.(534+1_535-1)_(734+1_735-1)del
+ p.Arg275Trp: 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
p.Lys211Asn: hom
c.(171+1_172-1)_(412+1_413-1)del: het
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)
Bras, 2008 Mutational screen 5 C n.a. 35(+/-12) c.(933+1_934-1)_(1083+1_1084-1)dup
+ p.Glu395*: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup
+ c.(7+1_8-1)_(171+1_172-1)del: 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