Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants
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G. Uziel | C. Rosano | B. Bembi | C. Lourenço | M. Filocamo | Nadia Passon | F. Stanzial | F. Hazan | A. Dardis | S. Zampieri | I. Moroni | R. D. de Kremer | N. Azar | A. Pettinari | A. M. Oller Ramírez | Silvia Cattarossi