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Article

Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation.

European journal of gastroenterology & hepatology - 1 Apr 2001

Palsson R, Jonasson J G, Kristjansson M, Bodvarsson A, Goldin R D, Cox D W, Olafsson S

Abstract excerpt

Wilson's disease, an autosomal recessive disorder of copper transport, usually presents with symptoms from the liver or central nervous system. Rarely, the initial manifestation is fulminant hepatic failure. The abnormal gene (ATP7B) is located on chromosome 13q and encodes a copper-transporting...

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Identifiers

PMID: 11338076
DOI: 10.1097/00042737-200104000-00023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11338076-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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