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Article

The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.

Journal of medical genetics - 1 Oct 2003

Cumming S-A, Halsall D J, Ewan P W, Lomas D A

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Share to Angioedema
Share to Complement C1 Inactivator Proteins
Share to Complement C1 Inhibitor Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 14569137
DOI: 10.1136/jmg.40.10.e114
PMCID: PMC1735277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.PMID 14569137Read ↗

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Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.Semantic proximity Read ↗

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Newly found C1 inhibitor gene mutation in hereditary angioedema patients.Semantic proximity Read ↗

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Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variantsSemantic proximity Read ↗

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.Semantic proximity Read ↗

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