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Overview of included studies for PARK-DNAJC6:
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.2223A>T
c.2365C>T
c.2371C>T
c.2779A>G
c.801-2A>G
Country
Brazil
Netherlands
Palestine
Sudan
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Elsayed, 2016
Other/Mixed
1
n.a.
0%
10
p.Gln789*
: hom
Olgiati, 2016
Other/Mixed
4
C
50%
31(+/-9)
p.Thr741Thr
: hom
p.Arg927Gly
: hom
Köroğlu, 2013
Other/Mixed
4
n.a.
25%
10(+/-1)
p. Gln791*
: hom
Edvardson, 2012
Other/Mixed
2
n.a.
100%
9(+/-3)
c.801-2A>G
: hom
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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