Articles with "pseudodeficiency" as a keyword



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Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

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Published in 2019 at "Italian Journal of Pediatrics"

DOI: 10.1186/s13052-019-0657-3

Abstract: Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the alpha-N-acetyl-D-glucosaminidase activity. Based… read more here.

Keywords: polymorphic variants; pseudodeficiency; ser141ser arg737gly; naglu gene ... See more keywords