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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 alpha 1AT and represent the ultimate in a continuum of alleles associated with alpha 1AT deficiency. The molecular...

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PMID: 9635295
DOI: 10.1006/mgme.1998.2680

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