Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy
| Autor: | Ramser, Juliane, Ahearn, Mary Ellen, Lenski, Claus, Yariz, Kemal O., Hellebrand, Heide, von Rhein, Michael, Clark, Robin D., Schmutzler, Rita K., Lichtner, Peter, Hoffman, Eric P., Meindl, Alfons, Baumbach-Reardon, Lisa |
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| Zdroj: | In The American Journal of Human Genetics 2008 82(1):188-193 |
| Databáze: | ScienceDirect |
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