A Pro504→ Ser Substitution in the Β-Subunit of Β-Hexosaminidase a Inhibits Α-Subunit Hydrolysis of GM2Ganglioside, Resulting in Chronic Sandhoff Disease

Journal of Biological Chemistry - United States
doi 10.1074/jbc.273.33.21386
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American Society for Biochemistry & Molecular Biology (ASBMB)

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