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Sandhoff "disease," infantile form
- ... variants in the HEXB gene cause the severe form of Sandhoff disease, which becomes apparent in infancy. These variants prevent ... genetic changes are responsible for the less severe forms of Sandhoff disease, which appear later in life. More About This ...
- ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
