Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9

Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AIRE Protein
  • Amino Acid Transport Systems, Basic / genetics*
  • Cystine / analysis
  • Cystinuria / diagnosis
  • Cystinuria / genetics*
  • Cystinuria / urine
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / genetics
  • Transcription Factors / genetics

Substances

  • Amino Acid Transport Systems, Basic
  • SLC7A9 protein, human
  • Transcription Factors
  • Cystine