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Article

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

10 Feb 2017

Abstract excerpt

BACKGROUND: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy,...

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PMID: 28187749
DOI: 10.1186/s13023-017-0584-6

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