A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

Hum Mol Genet. 1994 Feb;3(2):369-70. doi: 10.1093/hmg/3.2.369.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons*
  • Genes*
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Oligospermia / genetics*
  • Point Mutation*
  • RNA Splicing*
  • Sequence Deletion
  • Vas Deferens / abnormalities*

Substances

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