Tay-Sachs disease: a novel mutation from India
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DOI: 10.1136/bcr-2018-225916
Abstract: Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with… read more here.
Keywords: novel mutation; tay sachs; sachs disease; mutation india ... See more keywords