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Overview of included studies for PARK-ATP13A2:
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.1101_1102dupGA
c.1306+5G>A
c.1510G>C
c.1632_1653dup22
c.2126G>C
c.217dupG
c.2209C>T
c.2366_2367delTC
c.2473delinsAA
c.2525C>T
c.2552_2553delTT
c.2561T>G
c.2572C>T
c.2675G>A
c.2822delG
c.3057delC
c.3176T>G
c.3253delC
c.546C>A
c.774G>A
Country
Afghanistan
Belgium
Brazil
Canada
Chile
China
Greenland
India
Iran
Japan
Jordan
Morocco
Pakistan
Poland
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Park, 2011
Other/Mixed
2
A
50%
17(+/-0)
p.Leu1085Trpfs*4
+
p.Leu1059Arg
: comp. het.
Crosiers, 2011
Family study
1
n.a.
100%
n.a.
p.Phe851Cysfs*6
: hom
Paisán-Ruiz, 2010
Other/Mixed
2
n.a.
50%
17(+/-1)
p.Thr368Argfs*29
: hom
Ning, 2008
Other/Mixed
1
n.a.
0%
22
p.Phe182Leu
: hom
Di Fonzo, 2007
Other/Mixed
1
n.a.
100%
12
p.Gly504Arg
: hom
Ramirez, 2006
Family study
9
n.a.
78%
14(+/-2)
p.Gly399_Leu435del
+
p.Tyr1020Thrfs*3
: comp. het.
p.Leu552Profs*238
: hom
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