|
rs118204456
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We expressed wild type FXII (FXII-WT), FXII-W268R and FXII-T309R (which causes HAE), as well as other FXII variants in HEK293 freestyle cells.
|
31771982 |
2020 |
|
rs118204456
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
|
25790805 |
2015 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
|
25790805 |
2015 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Characterization of patients with angioedema without wheals: the importance of F12 gene screening.
|
25744496 |
2015 |
|
rs118204456
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression.
|
25134986 |
2014 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene.
|
20490261 |
2010 |
|
rs118204456
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys.
|
19474702 |
2009 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
The aim of this study was to examine elements of the kallikrein-kinin system ('contact system') and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma of six patients with HAE caused by the Thr309Lys mutation and healthy probands.
|
19474702 |
2009 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.
|
19178938 |
2009 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene.
|
17825897 |
2007 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
|
16638441 |
2006 |
|
rs118204456
|
|
|
0.750 |
GeneticVariation |
BEFREE |
To shed more light on the pathogenic relevance of the HAE type</span> III-associated p.Thr328Lys mutation, we compared FXII activity and plasma levels in patients carrying the mutation with that of healthy control individuals.
|
17186468 |
2006 |
|
rs118204456
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
To shed more light on the pathogenic relevance of the HAE type III-associated p.Thr328Lys mutation, we compared FXII activity and plasma levels in patients carrying the mutation with that of healthy control individuals.
|
17186468 |
2006 |
|
rs889957249
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.
|
30809376 |
2019 |
|
rs889957249
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The results support a role of PLG K330E in the pathogenesis of HAE and suggest that genetic testing be considered as an approach to diagnose patients with unexplained angioedema.
|
31131012 |
2019 |
|
rs889957249
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28940870
|
|
|
0.030 |
GeneticVariation |
BEFREE |
All C1-INH-HAE type II patients from three families harboured the same substitution (c.1396C>T).
|
26535898 |
2015 |
|
rs28940870
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found the g.16788C>T (p.Arg444Cys) mutation in each 3, type II HAE-families.
|
14635117 |
2003 |
|
rs28940870
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.
|
2365061 |
1990 |
|
rs764987358
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The recent discovery of associations between PLG K330E and ANGPT1 A119S and HAE of unknown genetic cause (HAE-U), has raised the possibility that genetic evaluation could be used to diagnose HAE-U in patients with unexplained angioedema or non-confirmatory laboratory testing.
|
31131012 |
2019 |
|
rs764987358
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ANGPT1 p.A119S variant was detected in all members of the index family with U-HA</span>E but not in asymptomatic family members or an additional 20 patients with familial U-HAE, 22 patients with sporadic U-HAE, and 200 control subjects.
|
28601681 |
2018 |
|
rs121907948
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, two previously described mutations in the reactive center of C1 inh, p.R444C and p.R444H, have been detected in four unrelated patients with type II HAE.
|
11933207 |
2002 |
|
rs121907948
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema.
|
1451784 |
1992 |
|
rs753879928
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We expressed wild type FXII (FXII-WT), FXII-W268R and FXII-T309R (which causes HAE), as well as other FXII variants in HEK293 freestyle cells.
|
31771982 |
2020 |
|
rs776688962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We expressed wild type FXII (FXII-WT), FXII-W268R and FXII-T309R (which causes HAE), as well as other FXII variants in HEK293 freestyle cells.
|
31771982 |
2020 |