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Article

A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndrome.

The Kobe journal of medical sciences - 20 Jul 2011

Nakagawa Taku, Mure Takeo, Yusoff Surini, Ono Eiichi, Kusuma Harahap Indra Sari, Morikawa Satoru, Morioka Ichiro, Takeshima Yasuhiro, Nishio Hisahide, Matsuo Masafumi

Abstract excerpt

The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1, for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with hyperbilirubinemia, Crigler-Najjar syndrome and Gilbert's syndrome. In this study, we identified a UGT1A1 m...

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PMID: 22169899

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22169899-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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