Matches in UGent Biblio for { <https://biblio.ugent.be/publication/5661205#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B1011278.
- aggregation creator B1011279.
- aggregation creator B1011280.
- aggregation creator B1011281.
- aggregation creator B1011282.
- aggregation creator B1011283.
- aggregation creator B1011284.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2014".
- aggregation format "application/pdf".
- aggregation hasFormat 5661205.bibtex.
- aggregation hasFormat 5661205.csv.
- aggregation hasFormat 5661205.dc.
- aggregation hasFormat 5661205.didl.
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- aggregation isPartOf urn:issn:1018-4813.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon".
- aggregation abstract "Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). Mutations in the ATP7A gene can be identified in 95-98% of the Menkes disease patients by standard screening techniques. Investigation of RNA isolated from the fibroblasts of eleven patients with no identified mutations was performed, and revealed inclusion of new pseudo-exons into the ATP7A mRNA from three unrelated patients: two patients with OHS and one patient with classical Menkes disease. The pseudo-exons were inserted between exons 10 and 11, between exons 16 and 17 and between exons 14 and 15 in the three patients, as a result of deep intronic mutations. This is the first time the activation of pseudo-exons is demonstrated in the ATP7A gene, and it demonstrates the usefulness of RNA analysis, in terms of revealing disease-causing mutations in noncoding regions. The fact that three different mutations cause disease by the activation of pseudo-exon inclusion also indicates that in Menkes disease this is an important mechanism, which has hitherto been overlooked.".
- aggregation authorList BK1418116.
- aggregation endPage "521".
- aggregation issue "4".
- aggregation startPage "517".
- aggregation volume "22".
- aggregation aggregates 5661227.
- aggregation isDescribedBy 5661205.
- aggregation similarTo ejhg.2013.191.
- aggregation similarTo LU-5661205.