Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".
Copyright policy )Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.
Adult, Male, Heterozygote, Genetic Variation, Infant, Fibroblasts, Lipidoses, Hexosaminidases, Acetylglucosaminidase, Leukocytes, Humans, Female, Immunoelectrophoresis
Adult, Male, Heterozygote, Genetic Variation, Infant, Fibroblasts, Lipidoses, Hexosaminidases, Acetylglucosaminidase, Leukocytes, Humans, Female, Immunoelectrophoresis
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