A PI*MS is not always a PI*MS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine
Reference7 articles.
1. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency;Lopes;Pulmonology.,2018
2. Alpha-1 antitrypsin deficiency detection in a Portuguese population;Meira;COPD.,2018
3. Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world;Spínola;Respir Med.,2009
4. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach;Belmonte;Int J Chron Obstruct Pulmon Dis.,2016
5. Rare alpha-1-antitrypsin variants: are they really so rare?;Rodríguez-Frías;Ther Adv Respir Dis.,2012
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide;International Journal of Chronic Obstructive Pulmonary Disease;2021-09
2. Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis;BMC Pulmonary Medicine;2021-03-23
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