Article
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Human mutation - 1 Mar 2015
Caciotti Anna, Tonin Rodolfo, Rigoldi Miriam, Ferri Lorenzo, Catarzi Serena, Cavicchi Catia, Procopio Elena, Donati Maria Alice, Ficcadenti Anna, Fiumara Agata, Barone Rita, Garavelli Livia, Rocco Maja Di, Filocamo Mirella, Antuzzi Daniela, Scarpa Maurizio, Mooney Sean D, Li Biao, Skouma Anastasia, Bianca Sebastiano, Concolino Daniela, Casalone Rosario, Monti Elena, Pantaleo Marilena, Giglio Sabrina, Guerrini Renzo, Parini Rossella, Morrone Amelia
Abstract excerpt
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene. We studied 37 MPS IV A patients and defined genotype-phenotype correlations based on clinical data, biochemical assays, molecular analyses, and in silico structural analyses of associated mutations. We found that standard sequencing procedures,...
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