Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case

Arch Bronconeumol (Engl Ed). 2018 Apr;54(4):228-230. doi: 10.1016/j.arbres.2017.09.011. Epub 2017 Nov 6.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • Codon, Nonsense*
  • Female
  • Frameshift Mutation*
  • Gene Frequency
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Portugal
  • Sequence Analysis, DNA
  • Spain
  • alpha 1-Antitrypsin Deficiency* / genetics
  • alpha 1-Antitrypsin* / genetics

Substances

  • alpha 1-Antitrypsin
  • Codon, Nonsense
  • SERPINA1 protein, human