Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review
Abstract Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1. Many individuals affected by AATD are thought to be undiagnosed, leading to poor patient outcom...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-02-01
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| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13023-024-03069-1 |
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