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Overview of included studies for PxMD-PRRT2:
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.(?_-949)_(1242_?)del
c.(?_-949)_(1242_?)del (0.43 Mb)
c.(?_-949)_(1242_?)del (0.53 Mb)
c.(?_-949)_(1242_?)del (0.534 Mb)
c.(?_-949)_(1242_?)del (0.544 Mb)
c.(?_-949)_(1242_?)del (0.6 Mb)
c.(?_-949)_(1242_?)del (0.895 Mb)
c.1011C>T
c.1011_1012+9delCGGTGAGTGGG
c.1020_1021insATAAG
c.1023A>T
c.117delA
c.121_122delGT
c.133_136delCCAG
c.186_187delGC
c.215_216delCA
c.27dupT
c.291delC
c.322delA
c.324dupA
c.369dupG
c.388delG
c.487C>T
c.510dupT
c.514_517delTCTG
c.516dupT
c.529G>T
c.562C>T
c.573dupT
c.579dupA
c.601_604delCACT
c.640G>C
c.644C>G
c.647C>A
c.647C>G
c.649C>T
c.649delC
c.649dupC
c.697_698delAG
c.718C>T
c.741delC
c.776dupG
c.787C>T
c.796C>T
c.797G>A
c.824C>T
c.841T>C
c.859G>A
c.872C>T
c.884G>A
c.904dupG
c.913G>A
c.913G>T
c.917C>A
c.919C>T
c.922C>T
c.931C>T
c.950G>A
c.964delG
c.967G>A
c.972delA
c.980dupT
c.981C>G
c.996_997insGAC
Country
Argentina
Australia
Austria
Belgium
Canada
China
Finland
France
Germany
Greece
India
Indonesia
Iraq
Italy
Japan
Kenya
Malaysia
Malta
Mongolia
Morocco
Netherlands
Pakistan
Philippines
Poland
Singapore
Somalia
South Korea
Spain
Taiwan
Turkey
United Kingdom
United States
Vietnam
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Wang, 2011
Family study
24
A
54%
10(+/-3)
p.Arg217Profs*8
: het
p.Arg266Trp
: het
p.Gln163*
: het
Chen, 2011
Family study
31
A
45%
6
p.Arg217Profs*8
: het
p.Ser172Argfs*3
: het
p.Val325Serfs*12
: het
Lipton, 2009
Case report/Case series
1
n.a.
100%
n.a.
c.(?_-949)_(*1242_?)del (0.544 Mb)
: het
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Dec. 2, 2020. Version: 3.5.95
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