Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens

Am J Hum Genet. 1993 Jul;53(1):292-3.
No abstract available

Publication types

  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Heterozygote*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Vas Deferens / abnormalities*

Substances

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