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  • Title: Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.
    Author: Lucotte G, Sesboüé R.
    Journal: Mol Cell Probes; 1999 Oct; 13(5):389-91. PubMed ID: 10508561.
    Abstract:
    A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard isoelectrofocusing technique.
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