Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics

Hum Mutat. 2000 Apr;15(4):390. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO;2-K.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution / genetics
  • Amino Acid Transport Systems, Basic*
  • Asparagine / genetics
  • Carrier Proteins / genetics*
  • Cysteine / genetics
  • Cysteine / urine
  • Cystinuria / genetics*
  • Female
  • Genes, Recessive
  • Homozygote
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation, Missense / genetics
  • Point Mutation / genetics
  • Sequence Deletion / genetics
  • Threonine / genetics
  • Valine / genetics

Substances

  • Amino Acid Transport Systems, Basic
  • Carrier Proteins
  • Membrane Glycoproteins
  • SLC7A9 protein, human
  • Threonine
  • Asparagine
  • Valine
  • Cysteine