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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Paw, B H, Kaback, M M, Neufeld, E F
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1989
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC286923/
https://ncbi.nlm.nih.gov/pubmed/2522660
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