Cystinosis: from gene to disease

Nephrol Dial Transplant. 2002 Nov;17(11):1883-6. doi: 10.1093/ndt/17.11.1883.
No abstract available

Publication types

  • Review

MeSH terms

  • Amino Acid Transport Systems, Neutral
  • Cystine / metabolism
  • Cystinosis / genetics*
  • Cystinosis / metabolism
  • Glycoproteins*
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Membrane Transport Proteins
  • Mutation

Substances

  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Cystine