Associated Papers
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.
Matamala N et al.
Respiratory Research, 2026
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings.
Rodríguez Hermosa JL et al.
Respiratory Medicine Case Reports, 2025
Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Sarrou S et al.
International Journal of Molecular Sciences, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
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