Molecular characterization of PI*Shangzhou, a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin

Molecular characterization of PI*Shangzhou, 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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Bibliographic Details
Main Authors: José M. Hernández-Pérez, Mario A. González Carracedo, Angelines Concepción García, José A. Pérez Pérez
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
alpha-1-antitrypsin
continental China
deficiency allele
liver failure
SERPINA1
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.985892/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.985892/full

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