Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene

Hum Mutat. 2002 May;19(5):570-1. doi: 10.1002/humu.10064.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Substitution / genetics*
  • Arginine / genetics*
  • Crigler-Najjar Syndrome / epidemiology
  • Crigler-Najjar Syndrome / genetics*
  • Founder Effect*
  • Glutamine / genetics*
  • Humans
  • Monosaccharide Transport Proteins / deficiency
  • Monosaccharide Transport Proteins / genetics*
  • Mutation / genetics*
  • Tunisia / epidemiology

Substances

  • Monosaccharide Transport Proteins
  • UDP-galactose translocator
  • Glutamine
  • Arginine