A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

Hum Mutat. 2000 Sep;16(3):279. doi: 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons / genetics*
  • Guanine*
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / genetics
  • Male
  • Meconium
  • Sequence Deletion / genetics*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Guanine
  • Adenine