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Overview of included studies for PFBC-JAM2:
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.(67+1_68-1)_(394+1_395-1)
c.143delT
c.177_180delCAGA
c.1A>G
c.323G>A
c.395-1dupG
c.504G>C
c.685C>T
Country
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Schottlaender, 2020
Family study
7
n.a.
71%
n.a.
p.Arg229*
: hom
c.395-1dupG
+
p.Arg108His
: comp. het.
p.Arg60*
: hom
Cen, 2020
Mutational screen
4
A
25%
n.a.
p.Leu48*
: hom
p.Met1?
: hom
p.Trp168Cys
+
c.(67+1_68-1)_(394+1_395-1)
: comp. het.
© University of Lübeck. Last updated on
Feb. 11, 2020. Version: 3.5.91
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