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Article

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.

Human genetics - 1 Sept 1993

Siddique Z, McPhaden A R, Whaley K

Abstract excerpt

The polymerase chain reaction and nucleotide sequence analysis have been used to characterise a three nucleotide insertion in the eighth exon of one allele of the C1-inhibitor gene between nucleotides 16749 and 16750 in a kindred with type II hereditary angio-oedema (HAE). The effect of the resulting C1-inhibitor amino acid sequence alteration is discussed. This represents the first report of a nucleotide...

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PMID: 8396558
DOI: 10.1007/BF00219690

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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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C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.PMID 8396558Read ↗

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