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Article

Small amounts of functional ATP7A protein permit mild phenotype.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Jan 2015

Møller Lisbeth Birk

Abstract excerpt

Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. More than 400 different mutations have been identified in the ATP7A gene. We have conducted several studies in the hope of uncovering the relationship between genotype and...

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Source

Identifiers

PMID: 25172213
DOI: 10.1016/j.jtemb.2014.07.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Small amounts of functional ATP7A protein permit mild phenotype.PMID 25172213Read ↗

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