A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

J Med Genet. 2001 Sep;38(9):615-6. doi: 10.1136/jmg.38.9.615.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Transport Systems, Neutral
  • Base Sequence
  • Christianity
  • Cystinosis / epidemiology
  • Cystinosis / genetics*
  • DNA Mutational Analysis
  • Ethnicity / genetics*
  • Exons / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Testing
  • Glycoproteins*
  • Homozygote
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins
  • Mutation, Missense / genetics*
  • Ontario / epidemiology
  • Sequence Deletion / genetics

Substances

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