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Article

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.

Circulation - 12 Nov 2002

McElhinney Doff B, Krantz Ian D, Bason Lynn, Piccoli David A, Emerick Karan M, Spinner Nancy B, Goldmuntz Elizabeth

Abstract excerpt

BACKGROUND: Cardiovascular anomalies are among the most common features of Alagille syndrome (AGS). Mutations of JAG1 are found in most individuals with AGS. This study was undertaken to determine the spectrum of cardiovascular phenotypes associated with a JAG1 mutation and/or AGS, investigate po...

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Share to Alagille Syndrome
Share to Calcium-Binding Proteins
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

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Share to Pulmonary Artery

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Source

Identifiers

PMID: 12427653
DOI: 10.1161/01.cir.0000037221.45902.69

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12427653-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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