Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

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Description scientific article published on 23 January 2007
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author: Enzo Ricci  Giulia Tozzi  Gabriella Silvestri  Massimo Santoro  Fiorella Piemonte  Mario Sabatelli 

Publication date January 23, 2007
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