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Updated: Jan 24, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency

Diana Rojas Malaga1,2, Sandra Leistner-Segal3,4, Ana Carolina Brusius-Facchin1,5

  • 1Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, 90035-903, Brazil.

Italian Journal of Pediatrics
|May 16, 2019
PubMed

Keywords:
Alpha-N-acetyl-D-glucosaminidaseNAGLU genePseudodeficiency alleleSanfilippo B syndrome

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