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Overview of included studies for PxMD-KCNA1:
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.1007G>A
c.1025G>T
c.1210G>A
c.1221T>G
c.1222G>T
c.1241T>C
c.1241T>G
c.1249C>T
c.500G>T
c.555C>G
c.677C>A
c.677C>G
c.677C>T
c.724G>C
c.731C>A
c.746T>G
c.748_750delTTC
c.765C>A
c.785T>C
c.786C>G
c.847G>A
c.913C>T
c.919C>T
c.941T>C
c.956T>G
c.971G>C
c.975G>C
Country
China
Italy
Lebanon
Nepal
Spain
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Eunson, 2000
Family study
5
n.a.
60%
6(+/-4)
p.Ala242Pro
: het
p.Pro244His
: het
p.Arg417Term
: het
Zuberi, 1999
Family study
5
n.a.
60%
5(+/-3)
p.Thr226Arg
: het
Comu, 1996
Family study
5
n.a.
60%
n.a.
p.Thr288Met
: het
Lubbers, 1995
Family study
6
n.a.
17%
6(+/-1)
p.Glu325Asp
: het
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