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