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Article

[Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin].

Annales de biologie clinique - 1 Jan 2000

Joly Philippe, Francina Alain, Lacan Philippe, Heraut Jessica, Chapuis-Cellier Colette

Abstract excerpt

The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22008137
DOI: 10.1684/abc.2011.0613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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