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Article

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

Human mutation - 1 May 2006

Warthen D M, Moore E C, Kamath B M, Morrissette J J D, Sanchez-Lara P A, Sanchez P, Piccoli D A, Krantz I D, Spinner N B

Abstract excerpt

Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we identified JAG1 mutations in 94% of individuals. Mutations were found in 232 out of 247 patients studied and 83 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16575836
DOI: 10.1002/humu.20310

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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