1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.
| Autor: | Andreotti De Molfetta, Greice1,2,3 gamolf@fmrp.usp.br, Ayres Ferreira, Cristiane2, Onofre Vidal, Daniel2, de Rosso Giuliani, Liane4, Maldonado, Maria Jos‚4, Araujo Silva Jr., Wilson1,2,3 |
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| Zdroj: | BMC Medical Genetics. 2012, Vol. 13 Issue 1, p124-129. 6p. 1 Color Photograph, 1 Diagram, 2 Graphs. |
| Databáze: | Academic Search Ultimate |
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