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Overview of included studies for PARK-PARK7:
Click here for summary of patients' characteristics
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
Macedo, 2009
Mutational screen
1
n.a.
100%
34
p.Pro158del
: hom
Tarantino, 2009
Other/Mixed
1
n.a.
100%
38
c.252+8dupA
+
c.-24+66C>G
: comp. het.
Guo, 2008
Other/Mixed
2
A
n.a.
19(+/-1)
p.Leu10Pro
: hom
Annesi, 2005
Family study
2
n.a.
100%
24
p.Glu163Lys
: hom
Hering, 2004
Other/Mixed
1
n.a.
100%
34
p.Glu64Asp
: hom
Abou-Sleiman, 2003
Mutational screen
1
JA
n.a.
39
p.Met26Ile
: hom
Hague, 2003
Mutational screen
1
H
0%
n.a.
c.410-1G>C
+
p.Thr19Lysfs*5
: comp. het.
Bonifati, 2003
Family study
7
n.a.
n.a.
31(+/-5)
p.Leu166Pro
: hom
c.-4069_322+1852del
: hom
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