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Overview of included studies for PxMD-SLC2A1:
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.(?_-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
Schneider, 2009
Case report/Case series
2
C
50%
4
p.Arg333Gln
: het
p.Arg92Trp
: het
Suls, 2008
Family study
21
n.a.
48%
10(+/-6)
p.Asn219Glnfs*18
: het
p.Ser95Ile
: het
p.Asn317Thr
: het
p.Val140Met
: het
Show more (+1)
Weber, 2008
Family study
13
n.a.
54%
6(+/-3)
p.Ala275Thr
: het
p.Gly314Ser
: het
p.Gln282_Ser285del
: het
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