Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

Hum Mutat. 1995;6(2):190-1. doi: 10.1002/humu.1380060216.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons
  • Humans
  • Male

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator