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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
Farrer, 2001 Other/Mixed 4 C 100% 33(+/-11) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.619-46243_734+71252dup: comp. het.
Hedrich, 2001 Mutational screen 5 n.a. 80% 31(+/-11) c.(412+1_413-1)_(534+1_535-1)dup: het
p.Val324Alafs*111: hom
c.(534+1_535-1)_(618+1_619-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Lys349Serfs*20: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
Show more (+2)
Nisipeanu, 2001 Family study 6 B 83% 30(+/-7) p.Gln34Argfs*10: hom
Terreni, 2001 Mutational screen 3 n.a. 33% 41(+/-12) p.Arg42Pro: hom
Ujike, 2001 Mutational screen 4 A n.a. 29(+/-5) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Pineda-Trujillo, 2001 Other/Mixed 9 n.a. 44% 27(+/-12) p.Trp74Cysfs*8: hom
p.Cys212Tyr: hom
Maruyama, 2000 Family study 17 A 47% 25(+/-9) p.Arg33*: hom
p.Cys431Phe: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Cys431Phe
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: hom
Show more (+4)
Muñoz, 2000 Other/Mixed 1 n.a. 0% 20 p.Ala291Leufs*6: hom
Lücking, 2000 Mutational screen 8 n.a. 43% 23(+/-12) p.Cys289Gly: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
p.Met1?: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del
+ p.Glu409*: comp. het.
p.Asn52Metfs*29
Show more (+4) + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Abbas, 1999 Family study 19 n.a. 53% 40(+/-8) p.Thr415Asn: hom
p.Trp453*: hom
p.Gln34Argfs*5
+ p.Lys161Asn: comp. het.
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
Show more (+4)