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Article

[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Apr 2024

Xiong Q F, Lu Y J, Zou L, Zhou H, Ren H, Feng X N, Yang Y F

Abstract excerpt

Objective: To analyze the distribution characteristics of UGT1A1 mutant genes (including enhancers, promoters, and exons 1-5) and further explore the correlation between UGT1A1 genotype and clinical phenotypes in patients with inherited hyperunconjugated bilirubinemia. Methods: Patients diagnosed with hereditary hyperunconjugated bilirubinemia at Nanjing Second Hospital from June 2015 to December 2022 were...

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Identifiers

PMID: 38733189
DOI: 10.3760/cma.j.cn501113-20230830-00081
PMCID: PMC12822505

Genes

UGT1A1

Variants

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