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

Bibliographic Details
Published in:European Journal of Human Genetics 27(2019)6, S. 879-887
Main Authors: Stalke, Amelie (Author), Pfister, Eva-Doreen (Author), Brackmann, Renate (Author)
Format: Article
Language:English
Published: 2019
Subjects:
Online Access:https://doi.org/10.1038/s41431-019-0345-1
Volltext
Related Items:In: European Journal of Human Genetics
Description
Item Description:Zweigstelle: Medizinische Bibliothek
Exemplar/Standort: Zs Open Access
Exemplar/Standort: Medizinische Bibliothek
DOI:10.1038/s41431-019-0345-1
Classmark:Zs Open Access