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Overview of included studies for PxMD-PNKD:
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.20C>T
c.26C>T
c.97G>C
Country
Belgium
Canada
China
Germany
Greece
Italy
Netherlands
Oman
Poland
Russia
Serbia
Taiwan
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Hempelmann, 2006
Family study
6
B
100%
n.a.
p.Ala7Val
: het
Chen, 2005
Family study
14
C
57%
n.a.
p.Ala7Val
: het
p.Ala9Val
: het
Rainier, 2004
Family study
12
C
50%
n.a.
p.Ala7Val
: het
p.Ala9Val
: het
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