Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H

J Med Genet. 1993 Sep;30(9):797. doi: 10.1136/jmg.30.9.797.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Arginine / genetics
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Homozygote
  • Humans
  • Infertility, Male / etiology*
  • Infertility, Male / genetics*
  • Male
  • Membrane Proteins / genetics
  • Point Mutation
  • Vas Deferens / abnormalities*

Substances

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