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Article

[Alpha-1 antitrypsin deficiency caused by Null mutation].

Revue des maladies respiratoires - 1 Sept 2016

Perrin J, Aimone-Gastin I, Balduyck M, Mercy M, Filhine-Trésarrieu P, Odou M-F, Chaouat A, Chabot F

Abstract excerpt

INTRODUCTION: Alpha-1 antitrypsin deficiency is a hereditary disease defined at the biological level by a serum alpha-1 antitrypsin level below 11μM/L. The null variants are characterized by undetectable circulating alpha-1 antitrypsin levels. Suspicion of a null variant requires the use of appropriate diagnostic techniques. CASE REPORT: We report the case of a 33-year old patient presenting with dyspnea on...

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Source

Identifiers

PMID: 26604020
DOI: 10.1016/j.rmr.2015.10.007

Genes

SERPINA1

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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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