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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03069-1 |