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

Internet

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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