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Article

alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

Nature - 1 Jan 2000

Kidd V J, Wallace R B, Itakura K, Woo S L

Abstract excerpt

A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of...

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PMID: 6306478
DOI: 10.1038/304230a0

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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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