Clinical Experience with SERPINA1 DNA Sequencing to Detect Alpha-1 Antitrypsin Deficiency

Ann Am Thorac Soc. 2018 Feb;15(2):266-268. doi: 10.1513/AnnalsATS.201708-694RL.
No abstract available

Publication types

  • Letter

MeSH terms

  • Aged
  • Algorithms
  • Canada
  • Female
  • Genetic Testing / methods
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pulmonary Emphysema* / diagnosis
  • Pulmonary Emphysema* / genetics
  • Pulmonary Emphysema* / physiopathology
  • Sequence Analysis, DNA* / economics
  • Sequence Analysis, DNA* / methods
  • Sequence Analysis, DNA* / standards
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / diagnosis*
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / physiopathology

Substances

  • SERPINA1 protein, human
  • alpha 1-Antitrypsin