Signs and symptoms
Genes
Methods
Disclaimer
About us
Contact us
Patients
Users
Database
Login
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
Dec. 2, 2020. Version: 3.5.95
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
