title: BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.
authors.affiliation: Department of Neurology, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Monteiro
authors.forename: Raquel
authors.initials: R
authors.lastname: Real
authors.forename: Goreti
authors.initials: G
authors.lastname: Nadais
authors.forename: Fernando
authors.initials: F
authors.lastname: Silveira
authors.forename: Miguel
authors.initials: M
authors.lastname: Leão
mesh_terms: D000328:Adult; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D011174:Portugal; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits