A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene

Hum Mol Genet. 1992 Sep;1(6):441-2. doi: 10.1093/hmg/1.6.441.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Base Sequence
  • Binding Sites
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons
  • Gene Frequency
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Proline*
  • Serine*

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Serine
  • Adenosine Triphosphate
  • Proline