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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-05-01
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Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13052-019-0657-3 |