A Novel Missense Mutation (C522Y) Is Present in the β-Hexosaminidase β-Subunit Gene of a Japanese Patient with Infantile Sandhoff Disease
- 17 July 1995
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 212 (2) , 564-571
- https://doi.org/10.1006/bbrc.1995.2007
Abstract
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