Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation

J Med Genet. 2000 Jul;37(7):543-7. doi: 10.1136/jmg.37.7.543.
No abstract available

Publication types

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

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Heteroduplex Analysis
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Neonatal Screening*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion
  • Trypsin / blood*
  • Trypsin / immunology

Substances

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