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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |
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