Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus

Ann Genet. 1998;41(4):213-5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles*
  • Amino Acid Substitution
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons
  • Female
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / complications*
  • Meconium*
  • Mutation, Missense*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator