Article
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
The Journal of clinical investigation - 1 Aug 1992
McInnes B, Potier M, Wakamatsu N, Melancon S B, Klavins M H, Tsuji S, Mahuran D J
Abstract excerpt
Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase A activity in his cultured fibroblasts was less than 3% of normal activity, a level observed in juvenile onset patients. Northern and Western blot analyses...
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