Gilbert syndrome caused by a homozygousmissense mutation (Tyr486Asp) of bilirubinUDP-glucuronosyltransferase gene

The Genetic Basis of the Reduced Expression of Bilirubin UDP-Glucuronosyltransferase 1 in Gilbert's Syndrome

Piter J. Bosma, Jayanta Roy Chowdhury, Conny Bakker et al. · New England Journal of Medicine · 1995 · 1.5K citations

Medicine, Genetics, Molecular Genetics +11

Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome

Gemma Monaghan, Máirín Ryan, Robert Hume et al. · The Lancet · 1996 · 589 citations

Life Sciences, Genetics, Molecular Genetics +8

Sequence of Exons and the Flanking Regions of Human Bilirubin–Udp–Glucuronosyltransferase Gene Complex and Identification of A Genetic Mutation in A Patient With Crigler–Najjar Syndrome, Type I

Piter J. Bosma, Namita Roy Chowdhury, Bart Goldhoorn et al. · Hepatology · 1992 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Identification of Defect in the Genes for Bilirubin UDP-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type II

S. Aono, Yasukazu Yamada, Hiroomi Keino et al. · Biochemical and Biophysical Research Communications · 1993 · 159 citations

Life Sciences, Genetics, Molecular Genetics +9

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase

Osamu Koiwai, M Nishizawa, Kayo Hasada et al. · Human Molecular Genetics · 1995 · 158 citations

Life Sciences, Genetics, Molecular Genetics +10