A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family

Hum Mutat. 1998:Suppl 1:S28-30. doi: 10.1002/humu.1380110110.
No abstract available

MeSH terms

  • Alternative Splicing / genetics*
  • Amino Acid Transport Systems, Basic*
  • Arabs*
  • Carrier Proteins / genetics*
  • Cystinuria / genetics*
  • Cystinuria / urine
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics*
  • Family Health
  • Female
  • Humans
  • Islam*
  • Israel
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation
  • Pedigree

Substances

  • Amino Acid Transport Systems, Basic
  • Carrier Proteins
  • Membrane Glycoproteins
  • SLC7A9 protein, human
  • DNA