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Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0(Heidelberg)
The clinical characterization of a null variant of SERPINA1 – PiQ0(Heidelberg) – 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, s...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741486/ https://www.ncbi.nlm.nih.gov/pubmed/35028284 http://dx.doi.org/10.1016/j.rmcr.2021.101570 |