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Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Human mutation - 1 Mar 2005

Servedio Veronica, d'Apolito Maria, Maiorano Nunzia, Minuti Barbara, Torricelli Francesca, Ronchi Flavio, Zancan Lucia, Perrotta Silverio, Vajro Pietro, Boschetto Loredana, Iolascon Achille

Abstract excerpt

Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity. CN2 presents intermediate levels of hyperbilirubinaemia as a result of an incomplete...

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PMID: 15712364
DOI: 10.1002/humu.9322

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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