Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
| Publié dans: | European Journal of Human Genetics 27(2019)6, S. 879-887 |
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| Auteurs principaux: | , , |
| Format: | Article |
| Langue: | English |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://doi.org/10.1038/s41431-019-0345-1 Volltext |
| Documents similaires: | In:
European Journal of Human Genetics |