The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

Ítems similars

• Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
  per: Faber, J P, et al.
  Publicat: (1990)
• Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.
  per: Faber, J. P., et al.
  Publicat: (1994)
• Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland
  per: Häggblom, Jan, et al.
  Publicat: (2015)
• A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.
  per: Wu, Y, et al.
  Publicat: (1994)
• Alpha-1-antitrypsin globules in the liver and PiM phenotype.
  per: Bradfield, J W, et al.
  Publicat: (1977)