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Article

Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.

Genetic testing - 1 Jan 2003

Loudianos Georgios, Kostic Vladimir, Solinas Paola, Lovicu Mario, Dessì Valeria, Svetel Marina, Major Tamara, Cao Antonio

Abstract excerpt

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase (ATP7B). Approximately 150 mutations of the ATP7B have been identified to date. In this paper, we report the results of molecular characteri...

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Source

Identifiers

PMID: 12885331
DOI: 10.1089/109065703322146786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12885331-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.PMID 12885331Read ↗

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