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Article

Splice site mutations in the ATP7A gene.

PloS one - 11 Apr 2011

Skjørringe Tina, Tümer Zeynep, Møller Lisbeth Birk

Abstract excerpt

Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations. We investigate 12 mutations for their effect on the mRNA transcript in vivo. Transcriptional data from another 16 mutations were...

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Identifiers

PMID: 21494555
DOI: 10.1371/journal.pone.0018599
PMCID: PMC3073976

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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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