ArticleAmerican journal of human genetics1996
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Article
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- N-glycosylation in the SERPIN domain of the C1-esterase inhibitor in hereditary angioedema.JCI insight · 2025Article
- Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.Clinical and translational allergy · 2023Article
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.Advances in therapy · 2023Review
- Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Hereditas · 2022Article
- Review
- Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.Frontiers in allergy · 2022Article
- Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).Frontiers in allergy · 2022Article
- HAE patient self-sampling for biomarker establishment.Orphanet journal of rare diseases · 2021Article
- First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.Journal of clinical immunology · 2018Article
- Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.Scientific reports · 2018Article
- Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.Clinical and experimental immunology · 2017Article
- Genetics of Hereditary Angioedema Revisited.Clinical reviews in allergy & immunology · 2016Review
- HAE Pathophysiology and Underlying Mechanisms.Clinical reviews in allergy & immunology · 2016Review
- Article
- Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.PloS one · 2015Article
- Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.PloS one · 2013Article
- The pathophysiology of hereditary angioedema.The World Allergy Organization journal · 2010Article
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6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A complete mutational scan of the gene coding for the serpin C1 inhibitor, comprising all eight exons and adjacent intron sequences and 550 bp preceding the transcription start site, was rapidly accomplished in 36 unrelated angioedema patients by using fluorescence-assisted mismatch analysis (FAMA). Mutations accounting for C1 inhibitor deficiency were identified in every one of 34 patients, with two failures turning out to be spurious cases. Two new substitution dimorphisms were also detected in introns. Changes affecting the C1 inhibitor protein, distributed throughout the seven coding exons, provide new insights into the molecular pathology of serpins. Six different splice-site and two promoter mutations were also found. Among the latter, a C-->T transition within one of two putative CAAT boxes of this TATA-less promoter, the sole idiomorphic nucleotide change in this kindred, was found homozygous in the proband, at variance with the dominant mode of transmission observed for structural mutations. FAMA, in the chemical probes configuration used in this study, is a rapid and robust mutation-scanning procedure, applicable to large DNA segments or transcripts and proved capable of 100% detection. Moreover, it provides accurate positional information--and hence recognition of multiple substitutions, precise relationship with those already known, and often immediate identification of the nucleotide change.
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8755917PMC1914725What OpenQuestion holds
Registered trials
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