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The biochemical genetics of the hexosaminidase system in man.
Tay-Sachs disease and related GM2 ganglioside storage disorders result from the absence of one form of hexosaminidase, HEX A. The persistence of a second major hexosaminidase isozyme, HEX B, does not protect against the lethal accumulation of GM2 ganglioside in the central nervous system. Using immu...
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Autor principal: | |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1979
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685763/ https://ncbi.nlm.nih.gov/pubmed/377957 |
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