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A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.

Molecular genetics and metabolism - 1 Feb 2002

Sappal Baljit S, Ghosh Siddhartha S, Shneider Benjamin, Kadakol Ajit, Chowdhury Jayanta Roy, Chowdhury Namita Roy

Abstract excerpt

Crigler-Najjar syndrome type 1 (CN-1) is characterized by severe unconjugated hyperbilirubinemia due to an inherited deficiency of hepatic bilirubin uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1), inherited as an autosomal recessive characteristic. CN-1 is potentially lethal because of the risk of bilirubin encephalopathy (kernicterus). Genetic lesions of the coding region of the UGT1A1 gene are...

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Identifiers

PMID: 11855932
DOI: 10.1006/mgme.2001.3284

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.PMID 11855932Read ↗

Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.Semantic proximity Read ↗

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