@article{article1690f4a3, title = {1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes}, author = {Molfetta, Greice Andreotti de and Ferreira, Cristiane Ayres and Vidal, Daniel Onofre and Giuliani, Liane de Rosso and Maldonado, Maria José and Silva Júnior, Wilson Araújo da}, year = {2012}, doi = {10.1186/1471-2350-13-124}, journal = {BMC Medical Genetics} }