Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes

J Genet. 2011 Apr;90(1):157-9. doi: 10.1007/s12041-011-0045-2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Transport Systems, Basic / genetics*
  • Amino Acid Transport Systems, Neutral / genetics*
  • Child
  • Cystinuria / genetics*
  • Heterozygote
  • Humans
  • Kidney Calculi / genetics
  • Male
  • Mutation*

Substances

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