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Overview of included studies for PARK-DJ1:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(252+1_253-1)_(322+1_323-1)del
c.-24+66C>G
c.-4069_322+1852del
c.133C>T
c.137delG
c.192G>C
c.252+8dupA
c.29T>C
c.313A>T
c.317_322+5delGTGCAGGTGAC
c.319G>C
c.322+4A>C
c.410-1G>C
c.461C>A
c.471_473delGCC
c.487G>A
c.497T>C
c.515T>A
c.56_57delinsA
c.78G>A
c.90+1dupG
c.91-2A>G
Country
China
India
Iran
Iraq
Italy
Netherlands
Portugal
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Stephenson, 2019
Family study
2
JA
100%
29(+/-1)
c.90+1dupG
: hom
Taghavi, 2017
Other/Mixed
2
n.a.
100%
27(+/-0)
p.Asp24Metfs*3
: hom
Di Nottia, 2017
Case report/Case series
1
C
0%
35
p.Thr154Lys
: hom
Abbas, 2016
Mutational screen
1
n.a.
100%
22
p.Ile105Phe
: hom
Erer, 2016
Mutational screen
1
n.a.
100%
23
c.322+4A>C
: hom
Taipa, 2016
Case report/Case series
1
n.a.
100%
22
p.Leu172Gln
: hom
Hanagasi, 2016
Family study
3
n.a.
33%
27(+/-7)
p.Gln45*
: hom
Bras, 2014
Case report/Case series
1
n.a.
100%
15
c.317_322+5delGTGCAGGTGAC
: hom
Darvish, 2013
Mutational screen
3
O
n.a.
n.a.
c.(252+1_253-1)_(322+1_323-1)del
: hom
Ghazavi, 2011
Mutational screen
2
n.a.
100%
20(+/-4)
c.91-2A>G
: hom
p.Ala107Pro
: hom
1
2
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Dec. 2, 2020. Version: 3.5.95
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