PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings
Background: Alpha-1 antitrypsin deficiency (AATD) is a common yet underrecognized genetic condition that predisposes to early-onset emphysema and liver disease. Diagnostic algorithms typically target frequent alleles (S and Z), potentially missing rare variants in patients with discordant phenotypes...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2025-01-01
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| Col·lecció: | Respiratory Medicine Case Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2213007125001212 |
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