Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.

doi:10.1016/s0009-8981(97)00167-8

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Article

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.

Clinica chimica acta; international journal of clinical chemistry - 9 Oct 1997

Clarke D J, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B

Abstract excerpt

Congenital familial non-haemolytic hyperbilirubinaemias are potentially lethal syndromes caused by genetic lesions that reduce or abolish hepatic bilirubin UDP-glucuronosyltransferase activity. Here we describe genetic defects that occur in the UGT1 gene complex that cause three non-haemolytic un...

Topics

Crigler-Najjar Syndrome
Genetic Variation
Gilbert Disease
Glucuronosyltransferase
Heterozygote
Humans

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