Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent

Hum Mutat. 1994;3(1):64-6. doi: 10.1002/humu.1380030111.
No abstract available

MeSH terms

  • Adolescent
  • Base Sequence
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / analysis
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Genes / genetics
  • Genetic Testing
  • Germany
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nucleic Acid Heteroduplexes
  • Polymerase Chain Reaction
  • White People / genetics*

Substances

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