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Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.

European journal of medical genetics - 1 Oct 2024

Wu Lina, Li Zhenkun, Song Yi, Li Yanmeng, Zhang Wei, Zhong Xuemei, Wang Xiaoming, Huang Jian, Ou Xiaojuan

Abstract excerpt

The spectrum of UDP-glucuronosyltransferase (UGT1A1) variants, which are associated with Gilbert syndrome (GS) and Crigler-Najjar syndrome (CNS-II), has been reported in Chinese and western countries. However, the genotype-phenotype correlation of the individual UGT1A1 variants in GS and CNS-II remains to be clarified. To explore the UGT1A1 variant pattern and genotype-phenotype correlations, we enrolled 310...

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Bilirubin
China
Crigler-Najjar Syndrome
East Asian People
Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Gilbert Disease

Glucuronosyltransferase

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PMID: 39069255
DOI: 10.1016/j.ejmg.2024.104962

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