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.
| Autores: | , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/337989 |
| Acceso en línea: | http://hdl.handle.net/10261/337989 https://api.elsevier.com/content/abstract/scopus_id/85160971982 |
| Access Level: | acceso abierto |
| Palabra clave: | Rare alleles Alpha1 antitrypsin deficiency Diagnosis Frequency Null alleles |
| Sumario: | [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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