Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Clarimon, 2005 Family study 4 JO 50% 24(+/-10) c.(412+1_413-1)_(734+1_735-1)del: hom
Shyu, 2005 Other/Mixed 20 A n.a. 43(+/-9) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(1083+1_1084-1)_(*2679_?)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(?_-103-1)_(7+1_8-1)del: hom
 Show more (+6)
Romito, 2005 Other/Mixed 1 n.a. 100% 45 p.Asp243Asn
+ c.(?_-103-1)_(7+1_8-1)dup: comp. het.
Poorkaj, 2005 Mutational screen 2 n.a. 0% 12(+/-5) p.Pro113Thrfs*51
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Wu, 2005 Other/Mixed 2 A 100% 34(+/-3) c.(7+1_8-1)_(171+1_172-1)del
+ p.Gly284Arg: comp. het.
Khan, 2005 Family study 5 n.a. 40% 28(+/-9) c.(412+1_413-1)_(534+1_535-1)del: hom
Bertoli-Avella, 2005 Other/Mixed 22 n.a. n.a. 27(+/-9) c.(171+1_172-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Thr415Asn
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys418Arg: comp. het.
c.535-49422_619-12906del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.1286-3C>G: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
c.872-60873_1167+2393del: hom
 Show more (+10)
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)
Capecci, 2004 Case report/Case series 1 n.a. 100% 22 c.(171+1_172-1)_(412+1_413-1)del: hom
Sasaki, 2004 Case report/Case series 1 n.a. n.a. 33 c.(171+1_172-1)_(412+1_413-1)del: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95