Discover Community Create You

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

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.

Molecular genetics & genomic medicine - 1 Nov 2021

Ghorbani Mohammad Javad, Dehghani Seyed Mohsen

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Crigler-Najjar Syndrome
Share to Glucuronosyltransferase
Share to Infant
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34545702
DOI: 10.1002/mgg3.1805
PMCID: PMC8606201

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.PMID 34545702Read ↗

Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.Semantic proximity Read ↗

Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II.Semantic proximity Read ↗

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.Semantic proximity Read ↗

Identification of three novel variants in the UGT1A1 gene as a cause of Crigler-Najjar syndrome type 1Semantic proximity Read ↗

UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2.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 ↗

Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.Semantic proximity Read ↗

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

A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II.Semantic proximity Read ↗

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.Semantic proximity Read ↗

A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.Semantic proximity Read ↗

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