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Article

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

PloS one - 1 Jan 2015

Li Liting, Dong Jibin, Wang Xiaohong, Guo Hongmei, Wang Huijun, Zhao Jing, Qiu Yiling, Abuduxikuer Kuerbanjiang, Wang Jianshe

Abstract excerpt

Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical featu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26076142
DOI: 10.1371/journal.pone.0130355
PMCID: PMC4489410

Genes

JAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26076142-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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