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Article

Severe hepatic Wilson's disease in preschool-aged children.

The Journal of pediatrics - 1 Nov 2000

Wilson D C, Phillips M J, Cox D W, Roberts E A

Abstract excerpt

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very...

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Source

Identifiers

PMID: 11060541
DOI: 10.1067/mpd.2000.108569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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