Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export

Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. We present a 5-year-old girl with the homozygous frame shift variant NM_000053.3: c.19_20del in exon 1 of ATP7B (consecutive exon numbering wit...

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Publicado no:Eur J Hum Genet
Main Authors: Stalke, Amelie, Pfister, Eva-Doreen, Baumann, Ulrich, Eilers, Marlies, Schäffer, Vera, Illig, Thomas, Auber, Bernd, Schlegelberger, Brigitte, Brackmann, Renate, Prokisch, Holger, Krooss, Simon, Bohne, Jens, Skawran, Britta
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777614/
https://ncbi.nlm.nih.gov/pubmed/30723317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0345-1
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