Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Genet Med. Sep-Oct 2004;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c.
No abstract available

Publication types

  • Guideline

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Genetic Carrier Screening*
  • Genetic Testing*
  • Humans
  • Mutation

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator