An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels

Hum Mutat. 1993;2(2):148-51. doi: 10.1002/humu.1380020217.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Black People / genetics
  • Black or African American
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / metabolism
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Female
  • Frameshift Mutation
  • Homozygote
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Phenotype
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism

Substances

  • CFTR protein, human
  • Membrane Proteins
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA