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Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Chronic and adult-onset GM2 gangliosidoses are neurological disorders caused by marked deficiency of the A isoenzyme of beta-hexosaminidase; they occur in the Ashkenazi Jewish population, though less frequently than classic (infantile) Tay-Sachs disease. Earlier biosynthetic studies had identified a...

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Detalhes bibliográficos
Main Authors: Paw, B H, Kaback, M M, Neufeld, E F
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC286923/
https://ncbi.nlm.nih.gov/pubmed/2522660
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