Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network

BACKGROUND: Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepatic pathogenicity. METHODS: This is a secondary analysis of...

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Detalles Bibliográficos
Autores principales: Lopez-Campos, José Luis, Rapun, Noelia, Czischke, Karen, Jardim, José R., Acquier, Mariano Fernandez, Munive, Abraham Ali, Günen, Hakan, Drobnic, Estrella, Miravitlles, Marc, Osaba, Lourdes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241133/
https://www.ncbi.nlm.nih.gov/pubmed/37277845
http://dx.doi.org/10.1186/s40246-023-00497-1

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