Article
Mechanisms of inherited deficiencies of multiple UDP‐glucuronosyltransferase isoforms in two patients with Crigler‐Najjar syndrome, type I
1 Jul 1992
Abstract excerpt
Crigler‐Najjar syndrome, type I (CN‐I) is a potentially lethal disorder characterized by severe unconjugated hyperbilirubinemia resulting from a recessively inherited deficiency of hepatic UDP‐glucuronosyltransferase (UGT) activity toward bilirubin (B‐UGT). Two forms of B‐UGT exist in human liver. mRNAs for these two forms and that for another isoform with activity toward simple phenols (P‐UGT) have unique 5′...
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