Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Coutinho, Maria Franciscada Silva Santos, LilianaGirisha, K.M.Satyamoorthy, K.Lacerda, LúciaPrata, Maria JoãoAlves, Sandra2013-03-212013-03-212012-05Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 111552-4825doi: 10.1002/ajmg.a.35295http://hdl.handle.net/10400.18/1525engDoenças GenéticasMucolipidosis IIMucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB genejournal article