Condition: Hereditary Angioedema Type I


rs1057520366 in SERPING1 gene and Hereditary Angioedema Type I PMID 29753808 2018 Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.

PMID 8172583 1993 Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.

PMID 8529136 1995 A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.

PMID 24456027 2014 Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

PMID 7814636 1995 Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

PMID 12773530 2003 The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.

PMID 2365061 1990 Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

PMID 1451784 1992 A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

PMID 7883978 1995 Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

PMID 8755917 1996 Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

PMID 1363816 1992 C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

PMID 14635117 2003 Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.

PMID 22994404 2012 Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.

PMID 2118657 1990 Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.

PMID 2296585 1990 Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

PMID 16409206 2006 Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.

PMID 3178731 1988 Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.

PMID 28194776 2017 Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.