Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
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) c.(171+1_172-1)_(412+1_413-1)del
+ p.Gly430Asp: 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+2T>A
 Show more (+4) + c.(618+1_619-1)_(871+1_872-1)del: comp. het.
Periquet, 2003 Mutational screen 9 n.a. 71% 28(+/-12) p.Arg275Trp: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Thr240Met
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
 Show more (+5)
Thobois, 2003 Other/Mixed 18 n.a. 39% 27(+/-9) p.Gln34Argfs*5: hom
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Met1?: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
+ p.Asn52Metfs*29: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(871+1_872-1)_(1083+1_1084-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup: hom
p.Asn52Metfs*29: hom
p.Cys441Arg: comp. het.
 Show more (+10)
Oliveira, 2003 Other/Mixed 17 n.a. n.a. 33(+/-13) p.Arg33Gln
+ c.1083+5G>T: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Pro113Thrfs*51
+ p.Gly430Asp: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
p.Cys253Tyr: comp. het.
 Show more (+3)
Kim, 2003 Family study 2 A 0% 41(+/-4) c.(412+1_413-1)_(534+1_535-1)del: hom
Rawal, 2003 Mutational screen 11 n.a. n.a. 33(+/-12) p.Trp445*: hom
p.Arg275Trp: hom
p.Pro437Leu: het
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn428Lysfs*141
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(734+1_735-1)del: comp. het.
c.872-1G>C
 Show more (+7) + c.(412+1_413-1)_(871+1_872-1)del: comp. het.
Kobayashi, 2003 Family study 8 A 75% 29(+/-10) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
Morales, 2002 Case report/Case series 3 n.a. 100% n.a. p.Cys212Tyr
+ p.Val56Glu: comp. het.
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