Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis

Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Chloride Channels / genetics
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons
  • Female
  • Frameshift Mutation*
  • Genetic Variation*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Reference Values
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • Chloride Channels
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator