Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

Coutinho, Maria FranciscaLacerda, LúciaPrata, Maria JoãoRibeiro, HelenaLopes, LurdesFerreira, CéliaAlves, Sandra2011-10-312011-10-312008-08Clin Genet. 2008 Aug;74(2):194-5. Epub 2008 Jun 20009-9163doi: 10.1111/j.1399-0004.2008.01040.xhttp://hdl.handle.net/10400.18/307Letter to the EditorengMucopolysaccharidosis IIICHGSNATMolecular characterizationLysosomal storage disordersDoenças GenéticasMolecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.journal article