Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote

J Med Genet. 1995 Nov;32(11):919. doi: 10.1136/jmg.32.11.919.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Child
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Fatal Outcome
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Point Mutation*
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator