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Article

Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

American journal of human genetics - 1 Dec 1998

Forbes J R, Cox D W

Abstract excerpt

Wilson disease is an autosomal recessive disorder of copper transport that causes hepatic and/or neurological disease resulting from copper accumulation in the liver and brain. The protein defective in this disorder is a putative copper-transporting P-type ATPase, ATP7B. More than 100 mutations have been identified in the ATP7B gene of patients with Wilson disease. To determine the effect of Wilson disease...

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Identifiers

PMID: 9837819
DOI: 10.1086/302163
PMCID: PMC1377638

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Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?PMID 9837819Read ↗

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