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

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Bibliographic Details
Title: Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
Authors: Santoro, Massimo1,2, Modoni, Anna1, Sabatelli, Mario1, Madia, Francesca1, Piemonte, Fiorella3, Tozzi, Giulia3, Ricci, Enzo1,2, Tonali, Pietro A.1,2, Silvestri, Gabriella1,2 gsilvestri@rm.unicatt.it
Source: Molecular Genetics & Metabolism. May2007, Vol. 91 Issue 1, p111-114. 4p.
Database: Academic Search Ultimate
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