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Molecular characterization of PI(*)S(hangzhou), a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin

Alpha-1-antitrypsin deficiency (AATD) is a heritable condition that predisposes to respiratory and hepatic complications. Screenings in East Asia human populations for the AATD alleles most commonly found among Caucasians have yielded poor outcomes. Serum alpha-1-antitrypsin (AAT) levels, AAT phenot...

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Detalles Bibliográficos
Autores principales: Hernández-Pérez, José M., González Carracedo, Mario A., García, Angelines Concepción, Pérez, José A. Pérez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9518693/
https://www.ncbi.nlm.nih.gov/pubmed/36186645
http://dx.doi.org/10.3389/fped.2022.985892