Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
| Autor: | Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie |
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| Zdroj: | In The American Journal of Human Genetics 2010 87(2):189-198 |
| Databáze: | ScienceDirect |
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