Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin

Hum Mol Genet. 1994 Jun;3(6):999-1000. doi: 10.1093/hmg/3.6.999.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Albania
  • Base Sequence
  • Chloride Channels / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Republic of North Macedonia

Substances

  • CFTR protein, human
  • Chloride Channels
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator