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Article

Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

Molecular genetics and metabolism - 1 Apr 1998

Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M

Abstract excerpt

alpha 1-Antitrypsin (alpha 1AT) provides the major protection in the lung against neutrophil elastase-mediated proteolysis. Inheritance of alpha 1AT deficiency alleles is associated with an increased risk of emphysema and liver disease. alpha 1AT null alleles cause the total absence of serum alph...

Topics

Alleles
Animals
CHO Cells
Cricetinae
DNA Mutational Analysis
Genotype
Humans
Intracellular Fluid
Male
Pedigree
Peptide Fragments
Phenotype
Point Mutation

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RNA, Messenger

Transfection

alpha 1-Antitrypsin

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Identifiers

PMID: 9635295
DOI: 10.1006/mgme.1998.2680

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9635295-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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