Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Genç, 2016Case report / Case seriesnone1Bn.g.10c.(7+1_8-1)_(618+1_619-1)del + p.Cys253Tyr: comp. het.
Oczkowska, 2015Mutational screennone1n.g.n.g.n.g.p.Arg275Trp + p.Glu310Asp: comp. het.
Al-Mubarak, 2015Mutational screennone7n.g.n.g.34 (+/-12)p.Gln178*: hom
c.171+50347_413-21490del + p.Thr240Met: comp. het.
c.172-70365_413-16061del: hom
c.735-74079_871+19735del: hom
c.171+53980_534+4116del: hom

Show more (+2)
Guo, 2015Mutational screennone7An.g.n.g.c.(1285+1_1286-1)_(*2679_?)del + c.(1167+1_1168-1)_(1285+1_1286-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del + c.(412+1_413-1)_(618+1_619-1)del: comp. het.
c.(7+1_8-1)_(618+1_619-1)del + c.(?_-103-1)_(7+1_8-1)del: comp. het.

Show more (+4)
Tijero, 2015Mutational screennone14n.g.n.g.n.g.c.(412+1_413-1)_(534+1_535-1)del + p.Gln34Argfs*5: comp. het.
c.(?_-103-1)_(7+1_8-1)del + p.Asp18Valfs*26: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het

Show more (+2)
Moll, 2015Case report / Case seriesnone1Cn.g.35p.Arg275Trp + c.(?_-103-1)_(7+1_8-1)del: comp. het.
Ambroziak, 2015Mutational screennone7n.g.n.g.29 (+/-4)p.Cys446Phe + c.172-16728_412+422del: comp. het.
p.Gln34Argfs*5 + c.172-87670_534+27499del: comp. het.
p.Gln34Argfs*5 + c.413-4730_871+63575del: comp. het.
c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT + c.413-4730_871+63575del: comp. het.
p.Lys211Asn + c.8-224652_618+32307dupinvAAGATTTins: comp. het.

Show more (+2)
Cornejo-Olivas, 2015Other / Mixednone1n.g.n.g.15c.619-1G>A + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Domingos, 2015Case report / Case seriesnone1n.g.n.g.37c.(412+1_413-1)_(534+1_535-1)del: hom
Fiala, 2014Mutational screen<401n.g.n.g.n.g.c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: het