Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes

Pulmonology. 2024 Mar-Apr;30(2):177-179. doi: 10.1016/j.pulmoe.2023.08.005. Epub 2023 Sep 30.

Authors

Ana Sara Gonçalves¹, João Carvalho², Cláudia Sousa², Susana Seixas³, Vítor Teixeira²

Affiliations

¹ Pulmonology Department, Hospital Central do Funchal, Madeira, Portugal. Electronic address: anasarasg@gmail.com.
² Pulmonology Department, Hospital Central do Funchal, Madeira, Portugal.
³ Instituto de Investigação e Inovação em Saúde, Universidade do Porto (i3S), Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal.

PMID: 37783642
DOI: 10.1016/j.pulmoe.2023.08.005

No abstract available

Publication types

Letter

MeSH terms

Genotype
Humans
Portugal
alpha 1-Antitrypsin Deficiency* / epidemiology
alpha 1-Antitrypsin Deficiency* / genetics

Substances

SERPINA1 protein, human