Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
| Izdano u: | European Journal of Human Genetics 27(2019)6, S. 879-887 |
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| Glavni autori: | , , |
| Format: | Članak |
| Jezik: | English |
| Izdano: |
2019
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| Teme: | |
| Online pristup: | https://doi.org/10.1038/s41431-019-0345-1 Volltext |
| Povezana djela: | In:
European Journal of Human Genetics |
| Opis djela: | Zweigstelle: Medizinische Bibliothek Exemplar/Standort: Zs Open Access Exemplar/Standort: Medizinische Bibliothek |
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| Digitalni identifikator objekta: | 10.1038/s41431-019-0345-1 |
| Signatura: | Zs Open Access |