The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.

Substitution mutations adversely affecting the alpha-subunit of beta-hexosaminidase A (alphabeta) (EC 3.2.1.52) result in Tay-Sachs disease. The majority affect the initial folding of the pro-alpha chain in the endoplasmic reticulum, resulting in its retention and degradation. A much less common occ...

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Main Authors: Hou, Y., Vavougios, G., Hinek, A., Wu, K. K., Hechtman, P., Kaplan, F., Mahuran, D. J.
Format: Artigo
Sprog:Inglês
Udgivet: 1996
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915090/
https://ncbi.nlm.nih.gov/pubmed/8659543
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