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Article

A Single multiplexed allele-specific polymerase chain reaction for simultaneous detection of alpha1-antitrypsin S and Z mutations.

Genetic testing - 1 Jan 2005

Ghebranious Nader, Mallum Jamie

Abstract excerpt

Alpha1-antitrypsin (AAT) deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. The S and Z mutations are the two most common mutations found in the AAT-deficient patients. We have developed a simple multiplexed allele-specific-PCR to detect both the S and Z mutations and the corresponding wild-type alleles. Polymerase chain reaction (PCR) product could...

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Identifiers

PMID: 16225408
DOI: 10.1089/gte.2005.9.185

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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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