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...

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Detalles Bibliográficos
Autores principales: Presotto, Maria A., Veith, Martina, Trinkmann, Frederik, Schlamp, Kai, Polke, Markus, Eberhardt, Ralf, Herth, Felix, Trudzinski, Franziska C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
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

Internet

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

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