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Article

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Human mutation - 1 Mar 2005

Jurkiewicz Dorota, Popowska Ewa, Gläser Christiane, Hansmann Ingo, Krajewska-Walasek Małgorzata

Abstract excerpt

Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the JAG1 (Jagged 1) gene, coding a ligand in the evolutionarily conserved Notch signaling pathway, are responsible for AGS. Here we present sixteen different JAG1 gene mutations, among them twelve novel, not described previously. Seven frameshift: c. 172_178del7...

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Source

Identifiers

PMID: 15712272
DOI: 10.1002/humu.9313

Genes

JAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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