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Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis

INTRODUCTION: Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with sus...

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Detalles Bibliográficos
Autores principales:	Lopez-Campos, José Luis, Osaba, Lourdes, Czischke, Karen, Jardim, José R., Fernandez Acquier, Mariano, Ali, Abraham, Günen, Hakan, Rapun, Noelia, Drobnic, Estrella, Miravitlles, Marc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184812/ https://www.ncbi.nlm.nih.gov/pubmed/35689213 http://dx.doi.org/10.1186/s12931-022-02074-x

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