Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
| Published in: | European Journal of Human Genetics 27(2019)6, S. 879-887 |
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| Main Authors: | , , |
| Format: | Article |
| Language: | English |
| Published: |
2019
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| Subjects: | |
| Online Access: | https://doi.org/10.1038/s41431-019-0345-1 Volltext |
| Related Items: | In:
European Journal of Human Genetics |