Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria

Hum Genet. 2007 Dec;122(5):554.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Amino Acid Transport Systems, Basic / genetics*
  • Codon / genetics
  • Cystinuria / genetics*
  • Humans
  • Mutation, Missense*

Substances

  • Amino Acid Transport Systems, Basic
  • Codon
  • SLC7A9 protein, human