A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient

Hum Mol Genet. 1993 Jan;2(1):83-4. doi: 10.1093/hmg/2.1.83.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA / isolation & purification
  • Exons*
  • Female
  • Humans
  • Introns*
  • Italy
  • Male
  • Membrane Proteins / genetics*
  • Nucleic Acid Heteroduplexes / genetics
  • Nucleic Acid Heteroduplexes / isolation & purification
  • Oligodeoxyribonucleotides
  • Pedigree
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Nucleic Acid Heteroduplexes
  • Oligodeoxyribonucleotides
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA