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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. METHODS: This is a secondary analysis of...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241133/ https://www.ncbi.nlm.nih.gov/pubmed/37277845 http://dx.doi.org/10.1186/s40246-023-00497-1 |