Login / Signup

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

Ilaria FerrarottiMarion WenckerJoanna Chorostowska-Wynimko
Published in: Orphanet journal of rare diseases (2024)
AATD goes far beyond the Z and S variants, suggesting there may be widespread underdiagnosis of patients with the condition. Each geographical region has its own distinctive variety of AATD variants and, therefore, comprehensive testing is needed to fully understand the true number and type of variants that exist. Comprehensive testing is also needed to ensure accurate diagnosis, optimize treatment strategies, and improve outcomes for patients with AATD.
Keyphrases
  • copy number
  • type diabetes
  • genome wide
  • dna methylation
  • metabolic syndrome