A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

Hum Mutat. 1996;7(2):182. doi: 10.1002/(SICI)1098-1004(1996)7:2<182::AID-HUMU19>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons / genetics
  • Humans
  • Male
  • Point Mutation*
  • Polymerase Chain Reaction
  • Vas Deferens / abnormalities*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator