High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients With Recurrent Idiopathic Pancreatitis and in Newborns With Hypertrypsinemia

Am J Hum Genet. 2000 Jun;66(6):2013-4. doi: 10.1086/302928.

Publication types

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

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Mutation, Missense / genetics*
  • Pancreatitis / genetics*
  • Trypsin / blood*
  • Trypsin / metabolism

Substances

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