Alpha1-antitrypsin deficiency.

By J. Stoller, L. Aboussouan. The Lancet, 2005

684 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/4679f2112525032a0ed777aa661d35528bab24d6

Citations in the corpus

• Global Initiative for Chronic Obstructive Lung Disease 2023 Report: GOLD Executive Summary (2023, unknown): “The most relevant genetic risk factor for COPD identified are mutations in SERPINA1, leading to α-1 antitrypsin deficiency, a major circulating inhibitor of serine proteases (24).”
• Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver (2015, unknown): “The ZZ mutant phenotype is characterized by a 80% reduction of the protein in plasma, which subsequently causes lung emphysema (Stoller and Aboussouan, 2005).”