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Article

[A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 May 2020

Ou Weijie, Lin Su, Wu Yilong, Zhu Yueyong

Abstract excerpt

A case of Gilbert syndrome (GS) with a heterozygous mutation in the UGT1A1 gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. UGT1A1*28 and c.211G>A heterozygous mutations in UGT1A1 gene were found, which...

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Identifiers

PMID: 32762156
DOI: 10.3785/j.issn.1008-9292.2020.04.13
PMCID: PMC8800809

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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