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Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.

Alice Maria BalderacchiMattia BignottiStefania OttavianiAndrea DenardoValentina BarzonEmna Ben KhlifaGuido VailatiDavide PiloniFederica BeniniLuciano CordaAngelo Guido CorsicoIlaria FerrarottiAnnamaria Fra
Published in: Clinical chemistry and laboratory medicine (2024)
These findings highlight the importance of implementing CP quantification in a clinical laboratory. Indeed, the variable amount of CP in patients with the same genotype may correlate with the variable severity of the associated lung and liver diseases. Moreover, CP can reveal the polymerogenic potential of newly discovered ultrarare AAT variants.
Keyphrases
  • copy number
  • genome wide
  • single cell
  • quality improvement
  • gene expression
  • risk assessment
  • dna methylation