|
Hereditary Angioedema Type I
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
|
29753808 |
2018 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
|
29753808 |
2018 |
|
Hereditary Angioedema Type I
|
0.730 |
Biomarker
|
disease |
BEFREE |
In total, 77 patients (58% females; median age, 70 years) were diagnosed with C1-INH-AAE and 675 patients with hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) (1 patient with C1-INH-AAE/8.8 patients with C1-INH-HAE).Median age at diagnosis was 64 years.
|
28284781 |
2018 |
|
Hereditary Angioedema Type I
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
|
28194776 |
2017 |
|
Hereditary Angioedema Type I
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%.
|
25053016 |
2014 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I.
|
22882460 |
2012 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
|
22994404 |
2012 |
|
Hereditary Angioedema Type I
|
0.730 |
Biomarker
|
disease |
CTD_human |
Appraisal of danazol prophylaxis for hereditary angioedema.
|
18387221 |
2009 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
|
16409206 |
2006 |
|
Hereditary Angioedema Type I
|
0.730 |
Biomarker
|
disease |
CTD_human |
Adverse effects of danazol prophylaxis on the lipid profiles of patients with hereditary angioedema.
|
15806011 |
2005 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
|
12773530 |
2003 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
|
14635117 |
2003 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
|
8755917 |
1996 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
|
7883978 |
1995 |
|
Hereditary Angioedema Type I
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
|
7883978 |
1995 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
|
7814636 |
1995 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
|
8529136 |
1995 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
|
8172583 |
1993 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
|
1451784 |
1992 |
|
Hereditary Angioedema Type I
|
0.730 |
Biomarker
|
disease |
CTD_human |
Antiepileptic drug-induced lymphoproliferative disorder associated with acquired C1 esterase inhibitor deficiency and angioedema.
|
1644161 |
1992 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.
|
1363816 |
1992 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.
|
2118657 |
1990 |
|
Hereditary Angioedema Type I
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
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 |