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

[Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2021

Wei Huijing, Liu Pan, Peng Xiaokang, Li Yarong, Che Fengyu, Tang Li, Liu Xiaoguai

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS: Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed....

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alagille Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 34096022
DOI: 10.3760/cma.j.cn511374-20200410-00249

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

[Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome].PMID 34096022Read ↗

[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Semantic proximity Read ↗

Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.Semantic proximity Read ↗

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].Semantic proximity Read ↗

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.Semantic proximity Read ↗

[Clinical features and gene mutation analysis of patients with Alagille syndrome].Semantic proximity Read ↗

Alagille syndrome with atypical phenotype diagnosed by molecular tests: unreported JAG1 mutation.Semantic proximity Read ↗

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.Semantic proximity Read ↗

[Molecular and clinical characteristics of a family with Alagille syndrome].Semantic proximity Read ↗

Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.Semantic proximity Read ↗

Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.Semantic proximity Read ↗

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