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New variants of alpha-1-antitrypsin: structural simulations and clinical expression

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is characterized by reduced serum levels of the AAT protein and predisposes to liver and lung disease. The characterization at structural level of novel pathogenic SERPINA1 mutants coding for circulating AAT could provide novel insights into the mech...

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Detalles Bibliográficos
Autores principales: Gonzalez, Angel, Belmonte, Irene, Nuñez, Alexa, Farago, Georgina, Barrecheguren, Miriam, Pons, Mònica, Orriols, Gerard, Gabriel-Medina, Pablo, Rodríguez-Frías, Francisco, Miravitlles, Marc, Esquinas, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741788/
https://www.ncbi.nlm.nih.gov/pubmed/36496391
http://dx.doi.org/10.1186/s12931-022-02271-8