Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation

J Med Genet. 1998 Jan;35(1):84-5. doi: 10.1136/jmg.35.1.84-a.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Homozygote*
  • Humans
  • Point Mutation / genetics*
  • Puerto Rico

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator