Antitrypsin deficiency alleles and the TaqI G → A allele in cystic fibrosis lung disease

@inproceedings{Mahadeva2002AntitrypsinDA,
  title={Antitrypsin deficiency alleles and the TaqI G → A allele in cystic fibrosis lung disease},
  author={Ravi Mahadeva and R. C. Westerbeek and David J. Perry and Jennifer U Lovegrove and David B. Whitehouse and Nicholas R. Carroll and Robert I. Ross-Russell and Anthony Kevin Webb and Diana Bilton and David A. Lomas},
  year={2002}
}
Cystic fibrosis (CF) is the commonest autosomal recessive genetic disorder amongst populations of northern European descent. Most patients succumb to progressive pulmonary disease, although there are considerable variations in clinical features [1, 2]. The pulmonary heterogeneity is largely independent of mutations within the cystic fibrosis transmembrane regulator (CFTR) gene on chromosome 7 [2] although recent reports have suggested that milder lung disease may occur in CF patients who are… CONTINUE READING