Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

J Med Genet. 2005 Mar;42(3):282-7. doi: 10.1136/jmg.2004.023903.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Female
  • Gene Frequency
  • Genetic Testing
  • Genetic Variation*
  • Genotype
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Phenotype
  • Prevalence
  • Registries
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / diagnosis
  • alpha 1-Antitrypsin Deficiency / epidemiology*
  • alpha 1-Antitrypsin Deficiency / genetics*

Substances

  • alpha 1-Antitrypsin