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Overview of included studies for PxMD-SLC1A3:
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
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.1177G>A
c.383T>G
c.556T>A
c.869C>G
c.952A>G
Country
Netherlands
South Korea
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Iwama, 2018
Case report/Case series
1
A
0%
0
p.Met128Arg
: het
Choi, 2017
Mutational screen
1
n.a.
100%
n.a.
p.Thr318Ala
: het
Choi, 2017
Family study
2
n.a.
100%
n.a.
p.Val393Ile
: het
de Vries, 2009
Family study
3
C
33%
9(+/-8)
p.Cys186Ser
: het
Jen, 2005
Case report/Case series
1
n.a.
100%
0
p.Pro290Arg
: het
© University of Lübeck. Last updated on
Feb. 11, 2020. Version: 3.5.91
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