Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)

Hum Mutat. 1997;9(2):183-4. doi: 10.1002/(SICI)1098-1004(1997)9:2<183::AID-HUMU13>3.0.CO;2-Z.
No abstract available

MeSH terms

  • Congenital Abnormalities / genetics
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Frameshift Mutation / genetics
  • Humans
  • Male
  • Mutation* / genetics
  • Vas Deferens / abnormalities*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator