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Molecular basis of an adult form of Sandhoff disease: Substitution of glutamine for arginine at position 505 of the β-chain of β-hexosaminidase results in a labile enzyme |
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| Authors: | Pieter A Bolhuis Nico J Ponne Hennie Bikker Frank Baas JMBVianney de Jong |
| Institution: | Academic Medical Center, Department of Neurology, Amsterdam, The Netherlands |
| Abstract: | |
| Keywords: | Hexosaminidase Sandhoff disease Genetic compound Amino acid substitution bp base pair |
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