A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema

Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU15>3.0.CO;2-S.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Frameshift Mutation / genetics*
  • Humans
  • Mutagenesis, Insertional / genetics
  • Pneumothorax / genetics
  • Pulmonary Emphysema / genetics*
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / genetics*

Substances

  • alpha 1-Antitrypsin