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sandhoff disease, infantile, juvenile, and adult forms
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HEXB
Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase
Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12
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