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Article

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.

Journal of Zhejiang University. Science. B - 1 May 2014

Li Yan, Qu Yu-jin, Zhong Xue-mei, Cao Yan-yan, Jin Li-min, Bai Jin-li, Ma Xin, Jin Yu-wei, Wang Hong, Zhang Yan-ling, Song Fang

Abstract excerpt

Crigler-Najjar syndrome type I (CN-I) is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene (UGT1A1) on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A1, of...

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Identifiers

PMID: 24793765
DOI: 10.1631/jzus.B1300233
PMCID: PMC4076604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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