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Assessing the Severity of the Small Inframe Deletion Mutation in the Alpha-Subunit of Beta-Hexosaminidase A Found in the Turkish Population By Reproducing It in the More Stable Beta-Subunit
(Springer, 2004)
GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of ...