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Article

Laboratory Diagnosis by Genotyping.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2017

Belmonte Irene, Montoto Luciana, Rodríguez-Frías Francisco

Abstract excerpt

Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients' AAT levels and their phenotypes. AAT genotype is determined by an allele-specific...

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PMID: 28752445
DOI: 10.1007/978-1-4939-7163-3_5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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