Clinical utility gene card for: Cystinuria

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Transport Systems, Basic / genetics*
  • Amino Acid Transport Systems, Neutral / genetics*
  • Chromosomes, Human, Pair 2
  • Cystinuria / diagnosis
  • Cystinuria / genetics*
  • DNA Mutational Analysis
  • Genetic Testing / methods
  • Humans
  • Prognosis
  • Sensitivity and Specificity

Substances

  • Amino Acid Transport Systems, Basic
  • Amino Acid Transport Systems, Neutral
  • SLC3A1 protein, human
  • SLC7A9 protein, human