A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides

Clin Genet. 2005 Jul;68(1):88-90. doi: 10.1111/j.1399-0004.2005.00459.x.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Chlorides
  • Cystic Fibrosis / etiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Family
  • Female
  • Humans
  • Lung Diseases / etiology
  • Lung Diseases / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Reference Values
  • Sweat*

Substances

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