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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 Jan 1990

Levy N J, Ramesh N, Cicardi M, Harrison R A, Davis A E

Abstract excerpt

Identical single-base changes in the C1 inhibitor gene that may result in dysfunctional inhibitor proteins are described in two different families with type II hereditary angioneurotic edema. Initially, a restriction fragment length polymorphism was defined that resulted from loss of a Pst I site within exon VIII, which encodes the region containing the reactive center. Exon VIII from the normal and abnormal...

Topics

Alanine
Amino Acid Sequence
Angioedema
Base Sequence
Codon
Complement C1 Inactivator Proteins
DNA
Genes
Humans
Leukocytes
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 2296585
DOI: 10.1073/pnas.87.1.265
PMCID: PMC53243

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2296585-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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