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Article

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

American journal of human genetics - 1 Jun 1998

Krantz I D, Colliton R P, Genin A, Rand E B, Li L, Piccoli D A, Spinner N B

Abstract excerpt

Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and pancreatic abnormalities. We have recently demonstrated that Jagged1 (JAG1) is the AGS gene. JAG1 encodes a ligand in the Notch intercellular signaling pathway. AGS is the first developmental disorder to be associated with this pathway and the first human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9585603
DOI: 10.1086/301875
PMCID: PMC1377154

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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