Article
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
Human molecular genetics - 1 Jul 1995
Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, Sato H
Abstract excerpt
Gilbert's syndrome, which is characterized by chronic, non-hemolytic unconjugated hyperbilirubinemia, is caused by a reduction in the activity of hepatic bilirubin UDP-glucuronosyltransferase (UGT). Here, we report that all examined patients with this disease carried missense mutations in the gene for UGT and that the mutations were heterozygous. An expression study in COS cells in vitro, using the expression...
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