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

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

Dettagli Bibliografici
Pubblicato in:	European Journal of Human Genetics 27(2019)6, S. 879-887
Autori principali:	Stalke, Amelie (Autore), Pfister, Eva-Doreen (Autore), Brackmann, Renate (Autore)
Natura:	Articolo
Lingua:	English
Pubblicazione:	2019
Soggetti:	Publikation <Klinikum Herford> Kinderklinik <Klinikum Herford> Klinikum Herford Zeitschriftenartikel
Accesso online:	https://doi.org/10.1038/s41431-019-0345-1 Volltext
Documenti correlati:	In: European Journal of Human Genetics

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