Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes

N Engl J Med. 1986 Mar 20;314(12):762-6. doi: 10.1056/NEJM198603203141207.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • DNA / analysis
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Pulmonary Emphysema / genetics*
  • RNA, Ribosomal / analysis
  • Transcription, Genetic
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency

Substances

  • RNA, Ribosomal
  • alpha 1-Antitrypsin
  • DNA