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A comparison of the mutation spectra of Menkes disease and Wilson disease.

Human genetics - 1 Jan 2004

Hsi Gloria, Cox Diane W

Abstract excerpt

The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. A comparison of the two proteins shows extensive conservation in the signature domains, with amino acid identities outside of the conserved domains being limited. The mutation spectra of MNK and WND were compared to confirm and...

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PMID: 14579150
DOI: 10.1007/s00439-003-1045-y

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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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