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...

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Main Authors: Dreyfus, J C, Poenaru, L, Vibert, M, Ravise, N, Boue, J
Format: Artigo
Jezik:Inglês
Izdano: 1977
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685303/
https://ncbi.nlm.nih.gov/pubmed/868875
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