Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology

PURPOSE: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The traditional algorithm for laboratory testing of AAT...

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Bibliographic Details
Published in:Int J Chron Obstruct Pulmon Dis
Main Authors: Veith, Martina, Klemmer, Andreas, Anton, Iker, El Hamss, Rachid, Rapun, Noelia, Janciauskiene, Sabina, Kotke, Viktor, Herr, Christian, Bals, Robert, Vogelmeier, Claus Franz, Greulich, Timm
Format: Artigo
Language:Inglês
Published: Dove 2019
Subjects:
Methodology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6873957/
https://ncbi.nlm.nih.gov/pubmed/31819391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/COPD.S224221
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