Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays

Clin Chem. 2004 Jan;50(1):251-4. doi: 10.1373/clinchem.2003.028068.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, U.S. Gov't, P.H.S.
  • Validation Study

MeSH terms

  • Cell Line
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Humans
  • Introns
  • Mutation
  • Polymorphism, Genetic
  • Reference Standards
  • Threonine / genetics

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Threonine