Crigler-Najjar syndrome type 1 associated with combined 1070A-->G, Q357R and (TA)7 mutation in Kuwaiti Bedouin families indicate a founder effect in Arabs

J Clin Gastroenterol. 2004 May-Jun;38(5):465-7. doi: 10.1097/00004836-200405000-00015.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arabs
  • Base Sequence
  • Child
  • Crigler-Najjar Syndrome / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Family Health
  • Founder Effect
  • Glucuronosyltransferase / genetics*
  • Humans
  • Kuwait
  • Mutation*

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase