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Overview of included studies for PFBC-XPR1:
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.1375C>T
c.1855A>G
c.260T>C
c.407G>A
c.419T>C
c.434T>C
Country
France
Sweden
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ramos, 2018
Mutational screen
4
C
75%
48(+/-18)
p.Leu145Pro
: het
p.Arg459Cys
: het
p.Asn619Asp
: het
Anheim, 2016
Mutational screen
2
C
100%
31
p.Leu87Pro
: het
Legati, 2015
Other/Mixed
7
C
57%
44
p.Ser136Asn
: het
p.Leu140Pro
: het
p.Leu145Pro
: het
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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