Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene

Hum Mol Genet. 1995 Aug;4(8):1463-4. doi: 10.1093/hmg/4.8.1463.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Codon, Nonsense / genetics
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / genetics
  • Diseases in Twins / genetics
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Nasal Polyps / genetics*
  • Phenotype
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • Codon, Nonsense
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA

Associated data

  • GENBANK/L49339
  • GENBANK/L49340