Molecular characterization of PI*Q0 la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants

Clin Genet. 2017 Jun;91(6):927-928. doi: 10.1111/cge.12889. Epub 2016 Nov 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Humans
  • Loss of Function Mutation*
  • Protein Conformation
  • alpha 1-Antitrypsin / blood
  • alpha 1-Antitrypsin / chemistry
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin / metabolism
  • alpha 1-Antitrypsin Deficiency / blood
  • alpha 1-Antitrypsin Deficiency / genetics*

Substances

  • SERPINA1 protein, human
  • alpha 1-Antitrypsin