Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

PloS one - 1 Jan 2015

Li Lufeng, Deng Guohong, Tang Yi, Mao Qing

Abstract excerpt

Crigler-Najjar Syndrome type II (CNS-II) is an autosomal recessive hereditary condition of unconjugated hyperbilirubinemia without hemolysis, with bilirubin levels ranging from 102.6 μmol/L to 342 μmol/L. CNS-II is caused by a deficiency of UDP-glucuronyl transferase (UGT), which is encoded by the UDP-glucuronyl transferase 1A1 gene (UGT1A1). In East Asian populations, the compound homozygous UGT1A1 G71R and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Bilirubin
Share to Crigler-Najjar Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

Share to Gene Expression

Share to Glucuronosyltransferase

Share to Homozygote

Share to Open Reading Frames

Source

Open in PubMed Open full text

Identifiers

PMID: 25993113
DOI: 10.1371/journal.pone.0126263
PMCID: PMC4439166

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.PMID 25993113Read ↗

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

An analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with Gilbert and Crigler-Najjar II syndromeSemantic proximity Read ↗

Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.Semantic proximity Read ↗

Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects.Semantic proximity Read ↗

Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.Semantic proximity Read ↗

Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.Semantic proximity Read ↗

UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation.Semantic proximity Read ↗

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.Semantic proximity Read ↗

[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].Semantic proximity Read ↗

Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.Semantic proximity Read ↗

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.Semantic proximity Read ↗

Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.