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pro vyhledávání: '"Cliff Heindel"'
Autor:
Cliff Heindel, Karlaina J.L. Osmon, Evan Woodley, John G. Keimel, Patrick Thompson, Subha Karumuthil-Melethil, William F. Kaemmerer, Jagdeep S. Walia, Steven J. Gray
Publikováno v:
Current Gene Therapy. 22:262-276
Background: GM2 gangliosidosis is a neurodegenerative, lysosomal storage disease caused by the deficiency of β-hexosaminidase A enzyme (Hex A), an α/β-subunit heterodimer. A novel variant of the human hexosaminidase α-subunit, coded by HEX M, has