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Overview of included studies for PARK-PINK1:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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.(1251+1_1252-1)_(1488+1_1489-1)del
c.(387+1_388-1)_(675+1_676-1)del
c.(387+1_388-1)_(675+1_676-1)dup
c.(387+1_388-1)_(959+1_960-1)del
c.(776+1_777-1)_(1123+1_1124-1)del
c.(776+1_777-1)_(959+1_960-1)del
c.(776+1_777-1)_(959+1_960-1)dup
c.(959+1_960-1)_(1123+1_1124-1)del
c.(959+1_960-1)_(1123+1_1124-1)dup
c.(?_-94)_(820_?)del
c.(?_-94)_(387+1_388-1)del
c.1015G>A
c.1040T>C
c.1079A>G
c.1100A>G
c.1103T>A
c.1106T>C
c.1123+1247_881del
c.1157G>C
c.1162T>C
c.1225G>A
c.1226G>T
c.1247C>G
c.1247C>T
c.1250A>G
c.1252-2_1272del
c.1252-52_1488+6del
c.1255T>C
c.1309T>C
c.1311G>A
c.1329delC
c.1366C>T
c.1391G>A
c.1466T>C
c.1474C>T
c.1488+1G>A
c.1557delG
c.1560delG
c.1570_1573dupTTAG
c.1602_1603insCAA
c.1617G>C
c.1647_1650delTGTG
c.218C>T
c.230T>C
c.270G>A
c.273delC
c.275G>T
c.373T>G
c.377A>C
c.454C>T
c.502G>C
c.509T>G
c.650C>A
c.70_101del
c.715C>T
c.718G>A
c.731C>G
c.736C>T
c.745T>G
c.774C>A
c.777-1614_853delins88
c.799C>T
c.813C>A
c.836G>A
c.852C>T
c.889delG
c.926G>A
c.92T>A
c.938C>T
c.949G>A
Country
Algeria
Brazil
Canada
China
Czech Republic
France
Germany
Greece
India
Iran
Israel
Italy
Japan
Jordan
Mexico
Micronesia
Morocco
Norway
Philippines
Poland
Saudi Arabia
South Africa
South Korea
Spain
Sri Lanka
Sudan
Sweden
Taiwan
Turkey
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Valente, 2004
Mutational screen
2
n.a.
50%
38(+/-1)
p.Cys92Phe
+
p.Arg464His
: comp. het.
p.Ala168Pro
: hom
Valente, 2004
Family study
9
n.a.
56%
36(+/-8)
p.Gly309Asp
: hom
p.Trp437*
: hom
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© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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