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

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 si...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5303239/
https://ncbi.nlm.nih.gov/pubmed/28187749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0584-6
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