Clinical utility gene card for: cystinosis

Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Transport Systems, Neutral / genetics*
  • Cystinosis / diagnosis
  • Cystinosis / epidemiology
  • Cystinosis / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Humans
  • Incidence
  • Mutation
  • Prenatal Diagnosis
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human