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

[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.

Detalhes bibliográficos
Autores: López-Campos, J. L., Rapun, Noelia, Czischke, Karen, Jardim, José R., Fernández Acquier, Mariano, Munive, Abraham Ali, Günen, Hakan, Drobnic, Estrella, Miravitlles, Marc, Osaba, Lourdes
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/337989
Acesso em linha:http://hdl.handle.net/10261/337989
https://api.elsevier.com/content/abstract/scopus_id/85160971982
Access Level:acceso abierto
Palavra-chave:Rare alleles
Alpha1 antitrypsin deficiency
Diagnosis
Frequency
Null alleles
Descrição
Resumo:[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.

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