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Publication : Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

First Author  Bolhuis PA Year  1993
Journal  Biochim Biophys Acta Volume  1182
Issue  2 Pages  142-6
PubMed ID  8357844 Mgi Id 
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