Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene

Hum Mol Genet. 1994 Feb;3(2):371. doi: 10.1093/hmg/3.2.371.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Frameshift Mutation
  • Genes*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Sequence Deletion*

Substances

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