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Article

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

Human mutation - 1 Nov 2000

Heritage M L, MacMillan J C, Colliton R P, Genin A, Spinner N B, Anderson G J

Abstract excerpt

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene (JAG1) have been found to result in the AGS phenotype and both protein truncating mutations and missense mutations have been...

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Source

Identifiers

PMID: 11058898
DOI: 10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11058898-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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