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The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil

OBJECTIVE: The clinical, functional, radiological and genotypic descriptions of patients with an alpha-1 antitrypsin (A1AT) gene mutation in a referral center for COPD in Brazil. METHODS: A cross-sectional study of patients with an A1AT gene mutation compatible with deficiency. We evaluated the A1AT...

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Detalles Bibliográficos
Autores principales: Felisbino, Manuela Brisot, Fernandes, Frederico Leon Arrabal, de Nucci, Maria Cecília Nieves Maiorano, Pinto, Regina Maria de Carvalho, Pizzichini, Emilio, Cukier, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Pneumologia e Tisiologia 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467596/
https://www.ncbi.nlm.nih.gov/pubmed/30517339
http://dx.doi.org/10.1590/S1806-37562017000000420