ArticleFrontiers in allergy2025
Case Report: Identification of a novel mutation, c.1067T > A, in the
Article in Frontiers in allergy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
4 citing papers in PubMed.
- Lanadelumab safety, efficacy, and pharmacokinetics in patients aged ≥12 with hereditary angioedema in China: an open-label, multicenter study.Frontiers in immunology · 2026Trial
- A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Orphanet journal of rare diseases · 2026Article
- Diagnostic delay,Frontiers in allergy · 2026Article
- Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.Frontiers in allergy · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent, unpredictable episodes of angioedema that commonly involve the face, limbs, respiratory tract, and gastrointestinal tract. Clinical presentations vary substantially among individuals, increasing the likelihood of misdiagnosis or missed diagnosis. In severe cases, if not properly managed, laryngeal edema can result in asphyxiation or even death. Here, we report a Chinese male patient who experienced recurrent limb swelling and abdominal pain. Laboratory tests revealed low levels of complement C4 and C1 inhibitors, along with impaired C1 inhibitor function. Genomic DNA extracted from peripheral blood samples underwent PCR amplification and Sanger sequencing, which identified a
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Registered trials
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