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Overview of included studies for PxMD-SLC2A1:
Click here for summary of patients' characteristics
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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.(?_-179)_(1660_?)del
c.109C>T
c.1168_1170delATC
c.1347C>A
c.1372C>T
c.179C>T
c.1A>G
c.236G>A
c.259G>A
c.272G>A
c.272G>C
c.274C>T
c.277C>T
c.283_284delinsAT
c.376C>T
c.388G>A
c.409A>G
c.418G>A
c.425T>A
c.436G>A
c.443C>T
c.457C>T
c.458G>A
c.482A>G
c.493G>A
c.506T>C
c.634C>T
c.652C>A
c.654dupC
c.667C>T
c.668G>C
c.789_790delCC
c.790dupC
c.805C>T
c.823G>A
c.843_854delCCAGCAGCTGTC
c.880T>C
c.880_881delinsGT
c.884C>T
c.940G>A
c.950A>C
c.971C>T
c.972G>A
c.988C>T
c.997C>T
c.998G>A
Country
Australia
Belgium
France
Germany
Italy
Japan
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Hully, 2015
Mutational screen
6
C
50%
n.a.
p.Glu146Lys
: het
p.Gly130Ser
: het
p.Gly79Asp
: het
p.Met142Lys
: het
p.Ser148Leu
: het
p.Thr295Met
: het
Show more (+3)
De Giorgis, 2015
Mutational screen
11
C
55%
9(+/-5)
p.Arg126Cys
: het
p.Arg153Cys
: het
p.Arg223Trp
: het
p.Arg458Trp
: het
p.Arg92Trp
: het
p.Gly91Ala
: het
p.Val165Ile
: het
Show more (+4)
Ito, 2015
Mutational screen
1
A
100%
1
p.Ser324Leu
: het
Alter, 2015
Case report/Case series
2
n.a.
50%
6
p.Tyr449*
: het
c.(?_-179)_(*1660_?)del
: het
Tacik, 2014
Family study
2
n.a.
100%
8(+/-1)
p.Ser324=
: het
Wolking, 2014
Case report/Case series
2
n.a.
0%
4
p.Gln161Arg
: het
p.Val87Ile
: het
Baschieri, 2014
Case report/Case series
1
n.a.
100%
n.a.
p.Arg333Gln
: het
Leen, 2014
Case report/Case series
4
n.a.
25%
17(+/-3)
p.Arg264Profs*117
: het
p.Gly91Asp
: het
p.Gln37*
: het
p.Met1?
: het
Show more (+1)
Tzadok, 2014
Mutational screen
1
n.a.
100%
5
p.Ile390del
: het
Leen, 2013
Case report/Case series
1
n.a.
100%
13
p.Arg153His
: het
1
2
3
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