In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene

Hum Mol Genet. 1993 Dec;2(12):2173-4. doi: 10.1093/hmg/2.12.2173.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Nucleic Acid Heteroduplexes / genetics
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid*
  • Sequence Deletion*

Substances

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