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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Bibliographic Details
Main Authors: Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Italian Journal of Pediatrics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13052-019-0657-3