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

Detaylı Bibliyografya
Yayımlandı:	European Journal of Human Genetics 27(2019)6, S. 879-887
Asıl Yazarlar:	Stalke, Amelie (Yazar), Pfister, Eva-Doreen (Yazar), Brackmann, Renate (Yazar)
Materyal Türü:	Makale
Dil:	English
Baskı/Yayın Bilgisi:	2019
Konular:	Publikation <Klinikum Herford> Kinderklinik <Klinikum Herford> Klinikum Herford Zeitschriftenartikel
Online Erişim:	https://doi.org/10.1038/s41431-019-0345-1 Volltext
İlgili Kayıtlar:	In: European Journal of Human Genetics

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