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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
Kumru, 2004 Other/Mixed 8 n.a. 63% 31(+/-7) p.Pro113Thrfs*51: hom
p.Ala291Leufs*6: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Show more (+4)
Poorkaj, 2004 Mutational screen 3 C 33% 20(+/-15) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Wiley, 2004 Mutational screen 3 n.a. 67% 32(+/-9) p.Arg275Trp
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
c.618+17A>C
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Hedrich, 2004 Mutational screen 3 n.a. 33% 25(+/-9) p.Arg275Trp: hom
c.(534+1_535-1)_(618+1_619-1)del
+ p.Arg275Trp: comp. het.
p.Asn52Metfs*29
+ p.Pro113Thrfs*51: comp. het.
Lincoln, 2003 Mutational screen 9 n.a. 89% 61(+/-10) p.Gln34Argfs*5: hom
p.Arg256Cys: hom
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(734+1_735-1)_(871+1_872-1)dup: hom
Show more (+3)
Lohmann, 2003 Mutational screen 6 n.a. n.a. 24(+/-6) p.Gln34Argfs*5: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
+ p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)dup
+ p.Asn52Metfs*29: comp. het.
p.Asn52Metfs*29: hom
Show more (+3)
Illarioshkin, 2003 Family study 3 n.a. 67% 17(+/-6) p.Gln34Argfs*5
+ c.7+1G>A: comp. het.
c.(734+1_735-1)_(871+1_872-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
Gouider-Khouja, 2003 Family study 3 n.a. 33% 26(+/-7) p.Gln34Argfs*5: hom
Lincoln, 2003 Other/Mixed 7 n.a. 71% 28(+/-8) p.Pro113Thrfs*51: hom
p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
Khan, 2003 Other/Mixed 9 n.a. 67% 23(+/-8) p.Gly430Asp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gln34Argfs*5: hom
p.Gln34Argfs*5
+ p.Cys268*: comp. het.
p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del
Show more (+4) + c.618+2T>A: comp. het.