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

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 on analysis performed in Brazil...

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Main Authors: Diana Rojas Malaga (Author), Sandra Leistner-Segal (Author), Ana Carolina Brusius-Facchin (Author)
Format: Book
Published: BMC, 2019-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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