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sandhoff disease, infantile
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HEXB
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease
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