Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
| Argitaratua izan da: | European Journal of Human Genetics 27(2019)6, S. 879-887 |
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| Egile Nagusiak: | , , |
| Formatua: | Artikulua |
| Hizkuntza: | English |
| Argitaratua: |
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1038/s41431-019-0345-1 Volltext |
| Antzeko dokumentuak: | In:
European Journal of Human Genetics |