Associated Papers
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 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
Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
Bashir A et al.
Respiratory Medicine, 2016
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
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B et al.
Respiratory Research, 2014
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