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Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

✍ Scribed by Sophie Gautron; Livia Poenaru; Joëlle Boue; Hugues Puissant; Jan J. W. Lisman; Jean-Claude Dreyfus


Book ID
104704570
Publisher
Springer
Year
1983
Tongue
English
Weight
798 KB
Volume
63
Category
Article
ISSN
0340-6717

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A 50-kb deletion was demonstrated in the gene encoding for the beta-subunit of human hexosaminidase (HEXB), using field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA from patients with Sandhoff disease. We investigated 14 patients from different parts of Europe and found no d