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Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozym...

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Библиографические подробности
Главные авторы: Neote, K, McInnes, B, Mahuran, D J, Gravel, R A
Формат: Artigo
Язык:Inglês
Опубликовано: 1990
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC296899/
https://ncbi.nlm.nih.gov/pubmed/2147027
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