Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR

Acta Paediatr. 1992 Jan;81(1):82-3. doi: 10.1111/j.1651-2227.1992.tb12086.x.

Abstract

The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene. The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry.

MeSH terms

  • Adult
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Restriction Enzymes / genetics
  • Exons
  • Female
  • Genes, Regulator
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Restriction Enzymes