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Article

Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.

Journal of clinical pathology - 1 Oct 2007

Bornhorst Joshua A, Calderon Fernanda R O, Procter Melinda, Tang Wei, Ashwood Edward R, Mao Rong

Abstract excerpt

BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency is a relatively common genetic disorder that can lead to the development of pulmonary disorders. Diagnosis of AAT deficiency is typically performed by isoelectric focusing (IEF) protein phenotyping in concert with determination of AAT serum concentration levels. The "P" phenotypic variant is associated with several known genetic variants that are found at unknown...

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Identifiers

PMID: 17906067
DOI: 10.1136/jcp.2006.042762
PMCID: PMC2014826

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Source receipt: pubmed, retrieved 7 Sept 2026.

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