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Article

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Human genetics - 1 Dec 1994

Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury N R, Chowdhury J R, Munnich A, Odièvre M

Abstract excerpt

Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q37 and that also encodes two phenol-UDP-glucuronosyltransferases. Here, we report eleven mutations (including nine...

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PMID: 7989045
DOI: 10.1007/BF00206965

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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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Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.PMID 7989045Read ↗

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