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Article

Sequence variation database for the Wilson disease copper transporter, ATP7B.

Human mutation - 1 Dec 2007

Kenney Susan M, Cox Diane W

Abstract excerpt

Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms affecting liver, brain, and/or kidney. The age of onset of symptoms varies from 3 to almost 70 years, so the diagnosis for this treatable disorder is easily missed. The defective gene is a membrane P-type ATPase, with similar structure to...

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Identifiers

PMID: 17680703
DOI: 10.1002/humu.20586

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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