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Article

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.

Journal of human genetics - 1 Jan 1999

Onouchi Y, Kurahashi H, Tajiri H, Ida S, Okada S, Nakamura Y

Abstract excerpt

Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alte...

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Share to Alagille Syndrome
Share to Calcium-Binding Proteins
Share to In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

Share to Jagged-1 Protein

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 10429362
DOI: 10.1007/s100380050150

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10429362-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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