Biochemical and molecular genetics of cystic fibrosis

Adv Hum Genet. 1991:20:153-266, 311-2. doi: 10.1007/978-1-4684-5958-6_4.
No abstract available

Publication types

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

MeSH terms

  • Biomarkers
  • Calcium / metabolism
  • Chlorine / metabolism
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Drug Resistance
  • Endopeptidases / analysis
  • Gene Frequency
  • Humans
  • Ion Channel Gating
  • Lung / physiopathology
  • Lysosomes / enzymology
  • Membrane Proteins / biosynthesis
  • Membrane Proteins / genetics
  • Microvilli / enzymology
  • Mutation
  • Pancreas / physiopathology
  • Phenotype
  • Polymorphism, Genetic
  • Sex Factors
  • Water-Electrolyte Balance

Substances

  • Biomarkers
  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Chlorine
  • Endopeptidases
  • Calcium