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

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

Abstract 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 analy...

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Bibliographic Details
Main Authors: José Luis Lopez-Campos, Noelia Rapun, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali Munive, Hakan Günen, Estrella Drobnic, Marc Miravitlles, Lourdes Osaba
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Human Genomics
Subjects:
Alpha1 antitrypsin deficiency
Diagnosis
Rare alleles
Null alleles
Frequency
Online Access:https://doi.org/10.1186/s40246-023-00497-1

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