Associated Papers
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.
Ottaviani S et al.
American Journal of Respiratory Cell and Molecular Biology, 2023
Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.
Wiesemann GS et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.
Seixas S et al.
The Application of Clinical Genetics, 2021
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Silva D et al.
Respiratory Medicine, 2016
Select a paper to view details