Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

• Published in: Application of clinical genetics Vol. 14; pp. 173 - 194
• Main Authors: Seixas, Susana, Marques, Patricia Isabel
• Format: Journal Article
• Language: English
• Published: New Zealand Taylor & Francis Ltd 01.01.2021; Dove; Dove Medical Press
• Subjects: Alleles; Cellular stress response; Chronic obstructive pulmonary disease; Elastase; Emphysema; Gene expression; Genomes; Genotypes; Geographical distribution; Hepatocytes; Inflammation; Liver diseases; Lung diseases; mmalton allele and qourém allele; Mutation; Neutrophils; Pathophysiology; Polymorphism; Population genetics; Proteins; Review; s allele; serpina1 variants; Serum levels; z allele; Z allele; S allele; MMalton allele and QOurém allele; SERPINA1 variants

Alpha-1-Antitrypsin deficiency (AATD), caused by mutations, is one of the most prevalent Mendelian disorders among individuals of European descend. However, this condition, which is characterized by reduced serum levels of alpha-1-antitrypsin (AAT) and associated with increased risks of pulmonary em...