A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene

Hum Mutat. 1998:Suppl 1:S156-7. doi: 10.1002/humu.1380110152.
No abstract available

Publication types

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

MeSH terms

  • Amino Acids*
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics*
  • Family Health
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Polymorphism, Single-Stranded Conformational

Substances

  • Amino Acids
  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA