3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants
| Autor: | Vaeth, S., Bruun, G. Hoffmann, Christensen, R., Thusholt, M., Andresen, B. S., Andersen, H., Jensen, U. |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Zdroj: | Vaeth, S, Bruun, G H, Christensen, R, Thusholt, M, Andresen, B S, Andersen, H & Jensen, U 2018, ' 3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants ', European Journal of Human Genetics, vol. 26, P10.08D, pp. 424 . < https://doi.org/10.1038/s41431-018-0247-7 > |
| DOI: | 10.1038/s41431-018-0247-7 |
| Databáze: | OpenAIRE |
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