Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg
The clinical characterization of a null variant of SERPINA1 – PiQ0Heidelberg – resulting in alpha1-antitrypsin (AAT) deficiency is described. This rare mutation (c.-5+5 G > A) has been previously identified but not clinically described. The 77 year-old female patient had GOLD-3, Group B COPD, sev...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-01-01
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| Series: | Respiratory Medicine Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S221300712100232X |