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

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 Brazilian patie...

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Detalles Bibliográficos
Autores principales:	Rojas Malaga, Diana, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518498/ https://www.ncbi.nlm.nih.gov/pubmed/31088528 http://dx.doi.org/10.1186/s13052-019-0657-3

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